Paeds

Breastfeeding
Cerebral palsy
Aneuploidies
Sex chromosome disorders
Other genetic disorders
Congenital heart disease
- Acyanotic
o ASD
o AVSD
o VSD
o PDA
o Aortic coarctation
o Aortic stenosis
- Cyanotic
o TOF
o TGA
o TAPVR
o Truncus arteriosus
Cough, cold, SOB
Croup, epiglottitis, laryngitis, bacterial tracheitis
Development
Down Syndrome
Failure to thrive
Febrile seizures
Fever
Gastroenteritis
Child with red urine
Infective endo
Kawasaki disease
Malnutrition
Meningitis
Neonatal jaundice
Nephritic syndrome, Poststrep GN, HUS, etc
Nephrotic syndrome
Pneumonia
Rashes and other paediatric exanthems
Resuscitation of newborn
Rheumatic fever
Seizures
SCD
Pediatric surgery
UTI
Vesicoureteric reflux
Wheezing, bronchiolitis
Diarrhea
Diphtheria
Pertussis
Vomiting

Procedures
- LP
- Suprapubic aspiration
- Peak flow
- Spacer
- ABG

Miscellaneous
- Asthma technical station
- Breastfeeding counselling
- Febrile seizure counselling
- BLS, SOB, SCD
- LP & consent
- Suprapubic aspiration, oral rehydration counselling, exchange transfusion
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Breastfeeding and General Infant Feeding
Sources: Kaplan USMLE Step 2 Review Book (For the theory), Nurse Pauline Lovindeer lecture (For practical)
November 2014
**THIS IS A COMMON OSCE COUNSELLING STATION AND MCQ TOPIC**

GENERAL

• Most can breast feed immediately after birth and all can feed by 4–6 months
• Feeding schedule should be by self-regulation; most establish by 1 month

WHO Definition: Exclusive Breastfeeding: Feeding infants with breast milk ONLY (for the first 6 months of life)
giving no other food or drink, NOT EVEN WATER.

- ONLY exceptions: Oral rehydration solution, or drops/syrups of vitamins, minerals or medicines.

- Breastmilk alone is sufficient for the first 6 months of life
- After which appropriate and adequate complementary foods should be introduced gradually
- Breastfeeding should be continued up to and beyond two years of age

BENEFITS/ADVANTAGES OF BREASTFEEDING

1. Psychological/emotional—maternal-infant bonding
Immune Functions of Milk
2. Premixed: - Ig- specific, antigen binding
- Lactoferrin- deprives baceria of iron
a. Provides optimal nutrition - Bifidus Factor- supports lactobacillus
bifidus
b. Right temperature and concentration - Oligosaccharides- block antigens binding
to mucosa in the genitourinary tract
3. Immunity – Protective effects against enteric (gastro) and other pathogens; - Nucleotides- promote maturation of gut

less diarrhea, intestinal bleeding,

• Passive transfer of T-cell immunity
4. Less atopic dermatitis, allergy
5. Less chronic illnesses later in life
6. Less spitting up, less early unexplained infant crying
7. Decreased allergies compared to formula fed
8. Maternal – weight loss and faster return to preconceptional uterine size

CONTRAINDICATIONS

NB: MASTITIS IS NOT A CONTRAINDICATION FOR BREASTFEEDING

1. HIV – (unless there is no other option, in which case the patient should exclusively breastfeed)
2. CMV, HSV – (IF lesions on breast)
3. HBV – (BUT Mothers with HBV infection are free to breastfeed their infants after the neonate has received the
appropriate recommended vaccinations against HBV)
4. Acute maternal disease if infant does not have disease (tuberculosis, sepsis)
5. Breast cancer
6. Substance abuse
7. Drugs:
 Wayne Robinson, MBBS Class of 2015
Absolute contraindications Relative contraindications

Antineoplastics Neuroleptics
Radiopharmaceuticals Sedatives
Ergot alkaloids Tranquilizers
Iodide/mercurial Metronidazole
Atropine Tetracycline
Lithium Sulfonamides
Chloramphenicol Steroids
Cyclosporin
Nicotine
Alcohol

OTHER IMPORTANT POINTS

• **Foremilk- the milk released at the beginning of a feed is watery, low in fat and high in carbohydrates
RELATIVE to the creamier hindmilk released as the feed progresses

The nutrient content is relatively independent of maternal diet except for fluid intake and some vitamins
- Carbohydrates - lactose, oligosaccharides
- Fat - LCFAs, fat soluble vitamins
- Protein - Whey 70%, casein 30%, immune proteins
- Minerals

COMPARISON OF BREAST MILK TO COW MILK.

Note: Do NOT give infants cow milk prior to 1 year. Reason: Fe-deficiency anemia with early introduction (< 1
yr) of cow’s milk

COMPONENT HUMAN MILK COW MILK

Water/solids Same Same

Calories 20 kcal/oz. 20 kcal/oz.
Protein 1–1.5% (whey dominant) 3.3% (casein dominant)
Carbohydrate 6.5–7% lactose 4.5% lactose
Fat High in LCFAs High in MCFAs
Minerals Iron better absorbed Low iron and copper
Vitamins Diet dependent, low in K Low in C, D
Digestibility Faster emptying Same after 45 days
Renal solute load Low (aids in renal function) Higher

***SO compared with cow’s milk, breast milk has a lower renal solute load as well as:
- Equal calories (20 kcal/oz.)
- Higher carbohydrates
- Lower protein, but higher whey %
- Lower calcium
- Lower PO4
- Lower renal solute load – aids in renal function

BREAST ANATOMY AND FUNCTION

- Alveoli are small sacs made of milk-secreting cells

 Wayne Robinson, MBBS Class of 2015
- ** Prolactin makes the cells produce milk
- ** Muscle cells contract and are acted on by oxytocin

Note: The difference between small and large breasts is fat content.
- The internal duct structure is the same

Prolactin

- Prolactin is secreted after the feed to

produce milk for the next feed
- Baby sucking stimulates the release of prolactin
in the blood
- More prolactin is secreted at night
- Suppresses ovulation
- Most prolactin is in the blood 30 mins after
the feeding and produces milk for the next feed

Oxytocin Reflex

- Oxytocin works before or during feed to make milk flow

- *** Oxytocin reflex can be stimulated before actual sucking by thinking lovingly of baby, sounds of baby, sight
of baby, confidence
- *** The reflex can be hindered by worry, stress, pain, doubt
- Makes uterus contract

Inhibition of breast milk

Note: The presence of milk in the breast, ie. a breast full of milk acts as an inhibitor and stops the secretion of further milk

**BREAST ATTACHMENT**

Baby Reflexes

1. Rooting- when something touches the lips, the baby opens mouth and puts tongue down and forward
2. Sucking- When something touches the palate the baby sucks
3. Swallowing Reflex- as the mouth fills with milk, the baby swallows

GOOD ATTACHMENT:

- Taken much areola and underlying tissue into the mouth

- Stretched the breast tissue to form a teat and the nipple forms about 1/3 of the teat
- Therefore the baby is suckling from the breast NOT solely the nipple
- Tongue cupped round nipple
Points:
- More areola is above the top than below the bottom lip
- The baby’s *mouth is WIDE OPEN
- Lower lip turns outwards
- *BABY’S CHIN TOUCHES THE BREAST

A. **HOW TO ACHIEVE THE ATTACHMENT**

1. Move the baby across the nipple until the mouth opens wide
 Wayne Robinson, MBBS Class of 2015
2. Nipple should point to the baby’s nose
3. Baby’s lower lip aims way below the nipple so he gets the tongue under the larger ducts

B. POSITIONING THE BABY

• Baby’s head and body in line.

• Baby held close to mother’s body (chin touching the breast)
• Baby facing the breast, nose to nipple, nipple points to roof of the mouth for attachment.
• Support the baby comfortably. Newborns – support whole body, older baby maybe just head and shoulder.

Cradle Hold- Same arm, supports while drinking from the same breast
Cross Cradle Hold- especially useful for young infants who have not figured out how to breastfeed yet
Football Hold- works well have large breasted mothers and those that need to avoid the baby being on their abdomen
Australian Hold- recommended when a mother has too much milk or the flow of milk is too fats
- Because one is reclined backwards or lying down, gravity will help your milk come out slower
- Therefore less chance of baby gagging on excess milk

(Get pics of the above)

HOW OFTEN TO BREASTFEED

- Encourage breastfeeding on demand

- Whenever the baby wants for as long as the baby who is well attached wants
- NOTE: Wake the baby if he sleeps too long
o **That is giving at least 6-8 feeds in 24 hours to a large baby (ie. about every 2-3 hours) or 10-12 feeds
to small or jaundiced babies in 24 hours

OTHER IMPORTANT POINTS

- Practice **rooming-in allow mothers and infants to remain together 24 hours a day
- Give no artificial teats or pacifiers (soothers) to breast-feeding infants
- Foster the establishment of breast-feeding support gropus and refer mothers to them on discharge from the
hospital or clinic

FORMULA FEEDING
• Infant formulas. Formula feeding is used as a substitute for or to supplement breast milk.
• Most commercial formulas are cow-milk-based with modifications to approximate breast milk.
• They contain 20 calories/ounce.
• Specialty formulas (soy, lactose-free, premature, elemental) are modified to meet specific needs.

• Formula versus cow milk – Fe-deficiency anemia with early introduction (< 1 yr) of cow’s milk.
• Advanced feeding—Stepwise addition of foods (one new food every 3− 4 days)

SOLIDS
• Iron-fortified cereal only at 4-6 months
• Step-wise introduction of strained foods (vegetables and fruits), then dairy, meats (6-9 months; stage I and II)
• Table foods at 9-12 months

• Foods better saved for year 2:

o Egg whites
 Wayne Robinson, MBBS Class of 2015
o Chocolate
o Nuts
o Citrus
o Wheat products
o Fish

• **No honey in first year of life – infant botulism

 Wayne Robinson, MBBS Class of 2015
Paediatrics
Cerebral Palsy
Source: Nelson’s (p. 2133), Toronto
September 2014

DEFINITION
Cerebral palsy (CP) – A term used to describe a GROUP of PERMANENT disorders of movement and posture, attributed
to NONPROGRESSIVE disturbance in the developing fetal or infant brain.

It is a symptom complex, NOT a disease

NOTE WELL:
• ** The motor disturbance is usually accompanied by sensory, perception, cognition, communication and
behaviour disturbances. (**Motor may sometimes actually be the least of their problems)

• *** CP is historically considered a “STATIC ENCEPHALOPATHY” BUT some of the neurologic features e.g.
movement disorders and orthopaedic complications e.g. scoliosis and hip dislocation can progress over time

INCIDENCE
• 1.5 -2.5/1000 live births
• M > F. 1.4:1 (**More common AND more severe in boys)
• Most common form of chronic motor disability that begins in childhood

AETIOLOGY/RISK FACTORS
CP caused by a broad group (below) of aetiologies that manifest as a common group of neurologic phenotypes:
(**Basically this means a lot of different kinds of insults to the developing brain can result in the damage that manifests itself
as CP. This is why CP itself is NOT a disease, but rather a manifestation of damage caused by other problems**)
• Developmental
• Genetic
• Metabolic
• Ischaemic
• Infectious (Intrauterine exposure to maternal infections)
• Thrombophilic disorders
• Kernicterus
• In utero/Neonatal stroke

***1/3 OF CASES HAVE NO DEFINITE AETIOLOGY!!***

***ALSO, the different types of cerebral palsy have different predominant aetiologies (see table below)

***NOTE: Most children with CP are actually born at term with uncomplicated labour and delivery (80% due to
antenatal factors causing abnormal brain development)
• 10% have evidence of intrapartum asphyxia
• 10% due to postnatal insult

Some important causes!!:

• ***Intrauterine exposure to maternal infection!! – Chorioamnionitis, inflammation of placental membranes,
maternal sepsis, umbilical cord inflammation, UTI associated with increased risk of CP
• Genetic factors: Abnormal IL-6 gene
• Multiple pregnancy (especially if one fetus dies in utero)
• Infertility treatments
 Wayne Robinson, MBBS Class of 2015

• In *premature infants*, major factors are:

o Intraventricular haemorrhage
o Periventricular leukomalacia (PVL)
MUST HAVE A GOOD IDEA OF THIS TABLE

CLINICAL MANIFESTATIONS

***CP generally divided into several motor syndromes***:

1. Spastic (80%) – UMN of pyramidal tract involved

a. Monoplegia
b. Diplegia (Most common) - ***Know this one mainly associated with periventricular leukmal. + prematurity
c. Hemiplegia
d. Quadriplegia
2. Athetoid/Dyskinetic (10-15%) – basal ganglia/thalamus involved
3. Ataxic (<5%) – cerebellum
4. Mixed

** NOTE WELL: CP also commonly assc with many developmental disabilities incl. mental retardation, epilepsy,
visual, hearing, speech, cognitive, behavior (The motor problem may be the least of the child’s problems!!!)**
[**Remember it can affect eyes, ears, mouth, intelligence and behavior**]
 Wayne Robinson, MBBS Class of 2015
SPASTIC HEMIPLEGIA (ONE SIDE OF BODY)

• ***Remember it is an UMN lesion!!!! – has inc. reflexes + Babinski + tone + clonus. Spastic in the name
gives it away as well
o *Spasticity refers to the quality of increased muscle tone which increases with the speed of passive
muscle stretching and is greatest in antigravity muscles
• Decreased spontaneous movements on affected side

Upper limbs:
• Arm more involved than leg
• **Hand preference at an early age (found in hemiplegia only: since one side is weaker, will start using other from
earlier because of this)
• Difficult in hand manipulation noted by 1 year
• Upper extremity assumes a flexed posture when child runs

Lower limbs:
• **Walking delayed usu until ~ 18-24 mo
• **Circumduction gait - Gait in which the leg is stiff, without flexion at knee and ankle, and with each step is rotated away from the
body, then towards it, forming a semicircle. Adapted swing phase of gait typical of cerebrovascular accident or any form of head injury
causing motor cortex or cerebellar damage; characteristic forward drag of affected limb (moving foot through an arc away from the
body, whilst toes remain in contact with the support surface), loss or marked reduction of arm swing, and leaning towards the
unaffected side to create sufficient hip height on the affected side to accommodate adapted leg

• Child often walks on tiptoe (on one side) – increased tone in gastrocnemius
• Extremities show growth arrest (especially hand and thumbnail)
o Most apparent in ankles – causes equinovarus of foot

• Increased deep tendon reflexes

• Ankle clonus
• Babinski sign

• About 1/3 of patients with spastic hemiplegia have a seizure disorder that develops in 1st 1-2 yrs

• MRI FAR MORE SENSITIVE THAN CT for most lesions seen in CP

SPASTIC DIPLEGIA (BOTH LEGS) - *MOST COMMON TYPE*

• Spasticity of the legs greater than in the arms

• Usually first indication is when infant begins to crawl – uses arms in the normal reciprocal fashion
BUT tends to drag the legs behind as a rudder – “commando crawl” – rather than using the normal 4-limb
crawling movement

• Spasticity (increased tone) in legs

• Brisk reflexes
• Ankle clonus
• Bilateral Babinski

• If child is suspended by the axillae – scissoring posture of lower extremities

• Walking is significantly delayed

• Feet in equinovarus
• Walks on tiptoe
 Wayne Robinson, MBBS Class of 2015
• Severe spastic diplegia ! Disuse atrophy, impaired lower extremity growth, disproportionate growth
compared to upper torso

• ***Most common neurological finding in children with spastic diplegia is PVL – seen on MRI in > 70% of
cases***
o Scarring and shrinkage in the periventricular white matter

SPASTIC QUADRIPLEGIA (ALL LIMBS)

• MOST SEVERE FORM OF CP (Obviously..)

• Marked motor impairment in all extremities AND high association with mental retardation and seizures
• Swallowing difficulties common – due to bulbar palsies – often lead to aspiration pneumonia!!!

• MRI -> Shows severe PVL

• Decreased spontaneous movements

• Increased tone an spasticity in ALL extremities
• Brisk reflexes
• Babinski

ATHETOID/DYSKINETIC CP

• Less common than spastic

• ***Infants characteristically HYPOTONIC with POOR HEAD CONTROL and marked HEAD LAG
• Develop variably increased tone with rigidity and dystonia over years

• Athetosis = involuntary writhing movements. Chorea = involuntary jerking movements

• Dystonia -> abnormality in tone where muscles are rigid throughout their range of motion and involuntary
contractions can occur leading to fixed limb postures

• Unlike spastic, UPPER EXTREMITIES GENERALLY MORE AFFECTED THAN LOWER

• Speech is typically affected (*dysarthria) – because oropharyngeal muscles involved

• Tongue thrust and drooling may occur

• Mostly associated with BIRTH ASPHYXIA

• Also associated with KERNICTERUS

DIAGNOSIS
• Thorough history and examination to exclude progressive disorder – e.g. tumour, degenerative disease, muscular
dystrophy

• MRI of brain to assess location and extent of lesions

• Tests of hearing and vision

• Chromosome studies, serology, neuroimaging, EMG, EEG (if seizures)

TREATMENT
• Best treatment for CP is prevention before it occurs – difficult
 Wayne Robinson, MBBS Class of 2015

• Maximize potential through multidisciplinary services such as primary care physician, OT, PT, SLP, school
supports, etc.

• Orthopedic management (e.g. dislocations, contractures, rhizotomy – divide roots of spinal nerves)’

• Management of symptoms:
o Spasticity (baclofen, Botox.)
o Constipation (stool softeners)
o Wheelchairs in quadriplegics
Paediatrics September 2014 Wayne Robinson, MBBS Class of 2015
ANEUPLOIDIES:!Change in the number of chromosomes that results from nondisjunction. Cell may have one (monosomy) or three (trisomy) copies of a particular chromosome
TRISOMY 21 TRISOMY 18 TRISOMY 13
Disease DOWN SYNDROME (47, XX, +21 OR 47 XY, +21) EDWARD’S SYNDROME (47, XX +18 (OR XY)) PATAU SYNDROME (47, XX, +13 (OR XY))
MUST SEE MY SEPARATE DOWN SYNDROME NOTES!!!!!!
nd
Incidence 1:600-800 - **Most common autosomal chromosomal abnrmlty 1:6000 live births (95% abort in T1) *2 most 1:10,000
- Rises w adv maternal age: 1:1500 @ 20 to 1:20 @ 45 common trisomy ~ 9% live past age 1
st nd
- *Most cases diagnosed in newborn period - Female > Male (3:1) (33% die in 1 mo, 50 by 2 , 90% by 1 yr)
- < 10% survive to age 1
Facial fts - Brachycephaly (short, broad head) - Microcephaly - Microcephaly, sloping forehead
- Microcephaly - Prominent occiput - Scalp lesion over occiput: “Aplasia cutis congenita” –
- Flattened occiput - Micrognathia (small jaw) Lesion above is PATHOGNOMONIC
- Hypoplastic midface **MIDLINE facial defects:
- Short neck - Cyclopia (single orbit), cebocephaly, cleft lip/palate
Eyes - Prominent medial epicanthic folds Microphthalmia Microphtalmia, or anopthlamia
- Upslanting eyes, speckled iris (Brushfield spots)
Disorders: Cataracts, myopia, strabismus
Ears Low-set, small (microtia) Low-set, malformed Low-set, small, malformed
Overfolding of superior helix
Disorders: Frequent AOM, hearing loss
Nose - Flattened nasal bridge, small nose Narrow nose, hypoplastic alae
Mouth - Open mouth with protruding tongue (not true macroglossia) Cleft lip or palate
Extremities - Brachydactyly: Short, broad hands - Hypoplastic nails - Polydactyly
- Clinodactyly: Short, incurved little fingers - Polydactyly, clinodactyly - Clubfeet or rocker-bottom feet
nd th
- Single palmar crease **Characteristic fist-clenching: 2 and 5 digits
st nd rd th
- Wide “sandal gap” between 1 & 2 toes overlap 3 and 4
- Rocker-bottom feet
Cardiac Defects in ~50% Defects in 60% Defects in 80%
** AVSD > VSD > ASD/PDA. Also mitral valve dx VSD, PDA, ASD VSD, PDA, ASD
GI Top 3: **Inguinal hernias
1. Duodenal atresia, 2. Annular pancreas 3. Imperforate anus
- Also Hirschsprung’s, oesoph. atresia
GU Cryptorchidism, infertility common Cryptorchidism *Hypospadias & *cryptorchidism in boys
PKD *Hypoplasia of labia minora in girls
PKD
CNS *HYPOTONIC & marked head lag at birth *HYPERTONIC **MIDLINE CNS defects: ***Alobar holoprosencephaly
Low IQ (25-70), developmental delay *Severe developmental delay Seizures
Deafness, severe developmental delay
OTHER **Normal birth wt & lgnth **Small and premature appearance ant birth Single umbilical artery
*Short stature (Usu small for gestational age (SGA)) Profound intellectual disability
*Dysplastic hips *Short stature
*Congenital/acquired hypothyroidism *Short sternum
* 1% risk of leukemia. < 2yo -> Acute megakaryoblastic leuk
> 2 yo -> ALL
*Polycythemia
*Atlantoaxial instability – increased distance btwn C1 & C2 -> incr
risk of spinal cord injury
*Inc risk of infection
* Alzheimer’s > 35 yo common
Prognosis/ Dx with karyotyping
Mgmt CBC, echo, yearly thyroid test, atlanto-occipital x-ray at 2 yr, sleep
study, hearing test, and ophthalmology assessment
Paediatrics September 2014 Wayne Robinson, MBBS Class of 2015
SEX CHROMOSOME DISORDERS
KLINEFELTER SYNDROME TURNER SYNDROME FRAGILE X SYNDROME
GENOTYPE 47, XXY (most common), 48, XXXY 45, X most common (50%) X-linked
INCIDENCE 1:1000 live MALE births 1:4000 live FEMALE births, NOT assc with advanced maternal age 1:3600 males, 1:6000 females
Increased with advanced maternal age - Reason: The nondisjunction occurs after conception. Not in the ovum
- ONLY monosomy that can survive to term!! Most common heritable cause of intellectual
- 99% spontaneously aborted (most common chrm abn assc w disability in boys
spontaneous abortion!!)
PHENOTYPE TALL, long limbs, slim, underweight SHORT stature is a cardinal feature **Overgrowth**:
- Long and thin face
****Before puberty, pts phenotypically - Face: Triangular face - Prominent jaw, forehead, and nasal bridge
indistinguishable from normal population - Eyes: Epicanthal folds - Large protuberant ears
- Ears: Low-set, mildly malformed - High arched palate
Often dx at *age 15-16 when axillary/pubic hair - Nose: Flat nasal bridge - Macroorchidism
develop but testes remain infantile. - Hyperextensibility
- Neck: Short neck + webbing of neck +/- cystic hygroma
Adults: Gynaecomastia - Broad, shield-like chest w. wide internipple distance
- Extrm: Puffy hands and feet (lymphoedema)
IQ Mild intellectual disability, behavioural or psychiatric *Most have normal IQ and life expectancy Mild to moderate intellectual disability, 20% of
disorders affected males have normal IQ
Reproduction Failure of growth/maturation of testes lead to: ***Have streak gonads (Gonadal dysgenesis) -> oestrogen Premutation carrier females at risk of developing
o o
*** Low testosterone -> no male 2 sexual chars - deficiency -> do not develop 2 sexual characteristics + primary premature ovarian failure
o
> no facial hair, no deep voice, no libido. amenorrhoea (sometimes 2 )
- Later -> osteopenia and osteoporosis 10% normal pubertal development/fertile
- Most infertile -> few viable sperm
(hypo/azospermia)
** Can still father children with (will be normal):
- Testicular biopsy + IVF + ICSI
OTHER Notable for its mild physical and developmental findings Complications:
Seizures, scoliosis, mitral valve prolapse
Congenital cardiac defects in 45%:
***Coarctation most common!!!!!! > bicuspid aortic valve. Post stenotic
dilatation later
Renal (~50%): Horseshoe kidney
*Inc risk of HTN
*Acquired hypothyroidism
DX/MGMT ** Increased risk of germ cell tumours and ** 33% dx in neonate due to CHD, 33% childhood, 33% adolescence Dx: Molecular testing of FMR1 gene
breast cancer!!!! Management:
o
- Most need oestrogen replacement to develop 2 characteristics
Management: - BUT nfertility NOT corrected with oestrogen replacement
Testosterone supplementation is indicated in - Use ART with donor ova. Must monitor in pregnancy due to poststenotic
adolescence aortic dilation -> possible dissecting aneurysm
- ECHO, ECG to screen for cardiac malformation
- GH therapy for short stature
Paediatrics September 2014 Wayne Robinson, MBBS Class of 2015
VERY BRIEF NOTES ON OTHER GENETIC DISORDERS
NOONAN SYNDROME
• 46, XX or 46, XY
• Autosomal Dominant!! (NOT a sex chromosome disorder) with variable expression
• Higher transmission of affected maternal gene
• 1:2000 male AND female live births
• ***Certain phenotypic features similar to females with Turner syndrome; therefore, sometimes called the “male Turner syndrome”, although it affects
both males and females (Unlike Turner’s which can only affect females)
o Short stature, webbed neck, triangular facies, hypertelorism, low set ears, epicanthic folds, ptosis (**basically same as Turner)
o Pectus excavatum
o Right-sided congenital heart disease: **Pulmonary stenosis = most common. (Turner’s syndrome has mainly left-sided CHD)
• Moderate intellectual disability in 25% of patients
• Delayed puberty
• Management:
o Affected males may require testosterone replacement therapy at puberty. ECHO, ECG
Disorders with dermatological features:
1. EHLERS-DANLOS SYNDROME
• Numerous types exist
• Classical EDS is Autosomal Dominant
• All forms:
o SKIN: Soft, fragile skin, easy ugly bruising and scarring, thin ‘cigarette paper’ scars
o Varicose veins
o Musculoskeletal discomfort, osteoarthritis
2. NEUROFIBROMATOSIS TYPE 1
• Autosomal Dominant – Mutation in NF1 gene on chromosome 17
• ***Clinical diagnosis requires 2 or more of the following:
1. 6 or more café-au-lait spots (means coffee with milk) (> 0.5 cm in children)
2. 2 or more neurofibromas of any type (dermal neurofibromata are small lumps in the skin that appear in adolescence) or 1 or more plexiform
neurofibromata;
3. 2 or more Lisch nodules (benign iris hamartomas)
Paediatrics September 2014 Wayne Robinson, MBBS Class of 2015
4. Freckling in the axilla, neck, or groin
5. Optic glioma (tumour in the optic pathway)
6. A distinctive bony lesion, e.g. sphenoid wing dysplasia, or dysplasia or thinning of the long bone cortex, e.g. pseudoarthrosis
7. First-degree relative with NF1.
• Small risk of serious complications, e.g. scoliosis, pressure effects of tumours or malignant change, (e.g. neural crest tumours), hypertension
3. TUBEROUS SCLEROSIS
• Autosomal Dominant multisystem disorder
• Characterized by **hamartomas in the brain, skin, and other organs.
• Presents with INFANTILE SPASMS. **Seizures and mental retardation are often associated
• Hypomelanotic macules **(‘ash-leaf’ spots) occur in ~95% by age 5 yrs. A Wood’s light (UV) may be needed to visualize these
• **Angiofibromas occur in later childhood in a butterfly distribution over the nose and cheeks.
• Other cutaneous features include forehead fibrous plaque, shagreen patches, ungual fibromata, and dental pits.
• Thorough clinical evaluation, e.g. cranial MRI, eye exam, renal US, is indicated to make the diagnosis prior to genetic testing
Other chromosomal disorders:
PRADER-WILLI – Chromosome 15 affected. Associated with OBESITY and SHORT STATURE. Insatiable appetite. DM II. Hypotonia.
DIGEORGE SYNDROME
o Chromosome 22 affected.
o Second most common genetic diagnosis (next to Down syndrome)
o Clinical features: “CATCH 22”
- *Cyanotic CHD
- Anomalies: Micrognathia and low set ears
- *Thymic hypoplasia - “immunodeficiency” - recurrent infections
- Cognitive impairment
- Hypoparathyroidism, hypocalcaemia
- 22q11 microdeletions
DUCHENNE MUSCULAR DYSTROPHY
[Straight from Toronto Notes 2014]
Epidemiology
• 1:4000 males
Etiology
• X-linked recessive: 1/3 spontaneous mutations, 2/3 inherited mutations
• Missing structural protein (dystrophin) -> muscle fibre fragility -> fibre breakdown -> necrosis and regeneration
Paediatrics September 2014 Wayne Robinson, MBBS Class of 2015
Clinical Presentation
• Proximal muscle weakness by age 3, positive Gower’s sign, waddling gait, toe walking
• Pseudohypertrophy of calf muscles (muscle replaced by fat) and wasting of thigh muscles
• Decreased reflexes
• Non-progressive delayed motor and cognitive development (dysfunctional dystrophin in brain)
• Cardiomyopathy
Diagnosis
• Molecular genetic studies of dystrophin gene (DMD) (first line)
• Family history (pedigree analysis)
• Increased CK (50-100x normal) and LDH
• Elevated transaminases
• Muscle biopsy, electromyography (EMG)
Management
• Supportive (e.g. Physiotherapy, wheelchairs, braces), prevent obesity
• Cardiac health monitoring and early intervention
• Bone health monitoring and intervention (vit D, bisphosphonates)
• Steroids (e.g. Prednisone or deflazacort)
• Surgical (for scoliosis)
• Gene therapy trials underway
Complications
• Patient usually ***wheelchair-bound by 12 yr of age
• Early flexion contractures, scoliosis, osteopenia of immobility, increased risk of fracture
• *** Death due to pneumonia/respiratory failure or CHF in 2nd-3rd decade
SPINAL MUSCULAR ATROPHY
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Congenital Heart Disease
Source: Nelson’s (p. 1621 of 2682) (For pathophysiology), Toronto Notes (Summary)
September 2014
**DETAILS OF EACH SPECIFIC LESION ACTUALLY START AT THE END OF PAGE 4**

Fetal circulation is designed so that oxygenated blood is preferentially delivered to the brain and myocardium.

Embryologic Development
• Most critical period of fetal heart development is between 3-8 wks gestation
• Single heart tube grows rapidly forcing it to bend back upon itself and assume the shape of a four chambered
heart, insults at this time are most likely to lead to CHD

Before Birth
Fetal lungs are bypassed by flow through “fetal shunts”: 3 MAIN SHUNTS:
• Shunting deoxygenated blood
o Ductus arteriosus: Connection between pulmonary artery and aorta
• Shunting oxygenated blood
o Foramen ovale: Connection between R and L atria
o Ductus venosus: Connection between umbilical vein and IVC

At Birth

With first breath, lungs open up and pulmonary resistance decreases allowing pulmonic blood flow

• Separation of low resistance placenta --> systemic circulation becomes a high resistance system --> ductus
 Wayne Robinson, MBBS Class of 2015
venosus closure
• Increased pulmonic flow --> increased left atrial pressures --> foramen ovale closure
• Increased oxygen concentration in blood after first breath --> decreased prostaglandins --> ductus
arteriosus closure
• Closure of fetal shunts and changes in vascular resistance --> infant circulation assumes normal adult flow

COMMON CONGENITAL HEART DISEASES

EPIDEMIOLOGY

8/1000 (0.8%) live births have CHD, which may present as a heart murmur, heart failure, or cyanosis; ventricular
septal defect (VSD) is the most common lesion (by far – 30-35%)

INVESTIGATIONS
• Echocardiogram, ECG, CXR, CT, MRI, cardiac catheterization

CYANOTIC VS. ACYANOTIC CONGENITAL HEART DISEASE

• Cyanosis: blue mucous membranes, nail beds, and skin secondary to an absolute concentration of deoxygenated
haemoglobin of at least 5 g/dl
• **Anaemic patients may not become cyanotic even in the presence of marked arterial desaturation.
REASON:
o The presence of cyanosis is dependent upon there being an absolute quantity of deoxyhaemoglobin (>
5g/dl). In a patient with overall less haemoglobin who has a large portion of their haemoglobin being
deoxygenated, may still not have enough of deoxygenated haemoglobin to reach the minimum (5 g/dl) for
cyanosis. Example: A patient with a Hb of 8 g/dl, with 50% of that (ie. 4 g/dl) being deoxygenated Hb, is still less likely to
show cyanosis than a person with an Hb of 12 with 50% deoxygenated (ie. 6 g/dl), even though the anaemic patient still has less
oxygen available overall. In fact, the patient with Hb 12 would have already reached the 5 g requirement and be cyanosed while
still at a higher oxygen saturation that the anaemic patient, who is not yet cyanosed but has a lower oxygen sat
• Therefore, patients with polycythaemia develop also develop cyanosis at higher oxygen saturation levels
Applying this understanding:
• Acyanotic heart disease: (i.e. L to R shunt or obstruction occurring beyond lungs) blood passes through pulmonic
circulation -> oxygenation takes place -> low levels of deoxygenated blood in systemic circulation -> no cyanosis
• Cyanotic heart disease: (i.e. R to L shunt) blood bypasses the lungs -> no oxygenation occurs -> high levels of
deoxygenated hemoglobin enters the systemic circulation -> cyanosis
 Wayne Robinson, MBBS Class of 2015
ACYANOTIC CONGENITAL HEART DISEASE
General Points to note:

Classified as in flow diagram above (L->R shunts = volume load lesions, obstructive = pressure load lesions)

1. Volume load/L->R shunt lesions: ASD, VSD, PDA, AVSD (AVSD is aka. AV canal, aka. Endocardial cushion
defect)
• All have communication between pulmonary and systemic circulation resulting in shunting of fully oxygenated
blood back to lungs.

• Shunt can be quantitated by calculating ratio of pulmonary to systemic blood flow (Qp:Qs). A 2:1 shunt implies
twice the normal pulmonary blood flow.

• Shunt direction and volume dependent upon three major factors: (1) size of defect (2) pressure gradient
between chambers or vessels (3) peripheral outflow resistance. Also compliance of the 2 connected chambers

• Chronic exposure of pulmonary circulation to high pressure and blood flow results in gradual increase in
pulmonary vascular resistance. Eventually may have a reversal of flow: Eisenmenger pathology

• Increased blood volume in lung (from the shunt) -> decreased lung compliance -> pulmonary oedema ->
symptoms of “heart failure”. However the heart itself is actually in a high output state, just that blood intended for
the systemic circulation is still being lost through a shunt.
• [Contrast with cardiomyopathies where heart muscle function actually decreases. Major causes of
cardiomyopathy in infants -> viral myocarditis, metabolic disorders, genetic defects]

• IMPORTANT: **HR and SV increase to maintain this high output. Mediated by sympathetic catecholamines.
This just worsens the problem as the sympathetic NS further increases body oxygen consumption.
o SNS activation also leads to symptoms incl. sweating etc. and the oxygen shortage leads to FAILURE
TO THRIVE.

• Heart remodeling occurs -> Mostly dilatation!! Some hypertrophy. (**L!R shunt lesions = eccentric
hypertrophy. Note: Compare with obstructive lesions, which cause more hypertrophy than dilatation and it is
concentric hypertrophy)
• Left untreated -> pressure builds up and eventually shunt reverses (Eisenmenger pathology)

2. Pressure load lesions (Obstructive) – (Coarctation of aorta, aortic stenosis, pulmonic stenosis)
• Obstruction to normal blood flow (Most commonly to ventricular outflow)

• Compensation predominantly involves hypertrophy!! But in later stages -> also dilatation

• Mild may be asymptomatic or minimal symptoms. Severe may lead to heart failure.
o Pulmonic stenosis -> Right heart failure incl. hepatomegaly, ascites, peripheral oedema
o Aortic stenosis -> Left heart failure incl. pulmonary oedema, poor perfusion AND right heart failure
o Coarctation -> Upper body HTN, diminished lower extremity pulses

***GENERAL INFORMATION***

• Chest X-ray good in determining if volume load problem (L->R shunt) OR pressure load problem (obstruction).
“Increased pulmonary vasculature”!!!! in shunts/volume load disease. Also cardiomegaly eg. in VSD

• ECG also useful to determine any hypertrophy of any chamber

A key point to note is that there are usually 3 factors that determine the extent/severity of a shunt:
 Wayne Robinson, MBBS Class of 2015
1. The SIZE of the defect
2. The pressure gradient between chambers or vessels
3. Peripheral outflow resistance

• Symptoms of each abnormality depend upon the SEVERITY of the shunt or obstruction

• When thinking about signs/examination findings – think pulses (incl. volume, RF delay, collapsing/bounding,
comparison of upper and lower extremity pulses), apex beat (displaced eg. cardiomegaly? Character?), thrills?,
murmurs?

• Findings of most investigations ALSO really depend on the severity of the defect (size, etc). May be anywhere
from normal to very abnormal. Eg. Cardiomegaly or LVH in PDA. May be absent of severe depending on size of
defect.

• [TRY TO FIGURE OUT WHICH CHAMBERS/VESSELS ARE ENLARGED IN EACH CONDITION BASED
ON WHICH PART OF THE HEART/VESSELS IS UNDER MORE STRAIN/OVERWORKING WITHOUT
LOOKING]
• Just know that echo is diagnostic for each. It shows the exact structural defect and flow etc.

• So when thinking of investigations think: 1. ECG (where is enlarged or hypertrophied), 2. CXR, 3. Echo

• For each condition, know the ECG findings (Eg. LVH/RVH), X-ray findings (e.g. increased pulmonary vascular
markings) and auscultation findings (e.g. murmurs, splitting etc.)!!!

VERY IMPORTANT ASSOCIATIONS TO KNOW (FROM LECTURE)!!!!

A. R -> L SHUNT/VOLUME OVERLOAD LESIONS

ATRIAL SEPTAL DEFECT (ASD)

3 MAIN TYPES
1. Ostium secundum – MOST COMMON – 50-70%
2. Ostium primum – common in Down syndrome (But Downs mainly associated with AVSD!)
3. Sinus venosus – defect at entry of SVC into RA
 Wayne Robinson, MBBS Class of 2015
(Rarely, entire septum --> Single atrium)

INCIDENCE
• Majority sporadic. Some part of the AD syndrome “Holt-Oram” syndrome)
• Females > Males – 3:1

BRIEF PATHOPHYS

• See factors affecting degree of shunting above

• 80-100% spontaneous closure rate if ASD diameter < 8 mm
• BUT overall closure rate = 40%
• Large defects -> Qp:Qs usually between 2:1 and 4:1
• Minimal symptoms in newborn. [Because RV has thicker walls limiting L->R shunt. With age, pulm. resistance drops
so RV doesn’t need to be as thick -> increased shunt]
• With age -> increased L->R shunt -> RA and RV enlargement -> dilatation of pulmonary artery [ie. basically
whole right side enlarges]
o LA may also enlarge BUT LV and aorta are NORMAL size
• NOTE!!! Despite the large pulmonary blood flow, pulmonary arterial pressure is usually normal as atrium to
atrium is NOT a high-pressure communication UNLIKE in a VSD. However in adulthood it may start to increase
-> possible CHF in adulthood

CLINICAL FEATURES
• Often asymptomatic in childhood. Found on routine physical exam.
• May have subtle failure to thrive
• Majority have no symptoms until 20s – 30s when CCF, pulmonary HTN and AF develop

EXAMINATION FINDINGS INCL. AUSCULTATION

• Subtle but characteristic
• Mild left precordial bulge
• Sometimes pulmonic ejection click
nd
• Most patients: Characteristic finding is WIDE AND FIXED splitting of the 2 heart sound in ALL
phases of respiration
o [Because with an ASD, right ventricular diastolic volume is constantly increased, so the ejection time is
always prolonged in any part of respiration, unlike in normal where RV volume increases during
inspiration due to increased venous return]
• Ejection systolic murmur Grade 2-3/6. Best heard at ULSE.
o Due to increased flow across pulmonary artery valves
o (Remember what causes a murmur: Increased flow through a normal valve OR “normal” flow through an
abnormal valve. The former occurs in this case)
• +/- Mid-diastolic murmur heard best at LLSE with bell
o Due to increased flow across tricuspid. Same explanation as above.

NOTE WELL!!! Flow through the actual ASD itself has NO murmur!!!

INVESTIGATIONS
• ECG: Right axis deviation (RAD), mild RVH, right bundle branch block (RBBB)
• CXR: Increased pulmonary vasculature (remember this occurs in L->R shunts due to increased pulm. blood flow)
• ECHO diagnostic

MANAGEMENT
• Elective surgical or transcatheter closure between 2-5 yr of age
• Preferred procedure is percutaneous catheter closure with AS occlusion device using transvenous approach
in cardiac cath. lab
 Wayne Robinson, MBBS Class of 2015

ATRIOVENTRICULAR SEPTAL DEFECTS (AVSD)

Aka. “AV canal defect” or “Endocardial cushion defect”

AV septal defect = Hole between the atria and between the ventricles

INCIDENCE
• Common in children with Down syndrome (This is the most common cardiac defect in Down’s!!!!)

BRIEF PATHOPHYS
• In complete AV septal defects, the L->R shunt occurs at both the atrial and ventricular levels.
• Pulmonary HTN and early increased pulmonary vascular resistance common (unlike ASD)
• With time --> Eisenmenger

CLINICAL FEATURES
[For complete AV septal defect]:
• Heart failure and intercurrent infections (why?) from infancy

EXAMINATION FINDINGS

• Signs of failure to thrive

• Precordial bulge
• Liver enlarged (due to heart failure)
• Moderate to marked cardiomegaly (laterally displaced apex beat)
• Systolic thrill at LLSE

• Widely split 2nd heart sound possible (same reason as ASD above)
• Mid-diastolic murmur at LLSE, low-pitched (bell) – Increased tricuspid flow
• Pulmonary ejection systolic murmur (ULSE)
• Possible holosystolic (pansystolic) murmur of mitral regurg.

INVESTIGATIONS
• ECG: See Nelson’s
• CXR: Mod-severe cardiomegaly, large pulmonary artery, increased pulmonary vascularity
• ECHO diagnostic

MANAGEMENT
• Surgical correction in infancy because of risk of pulmonary vascular disease.

VENTRICULAR SEPTAL DEFECT (VSD)

INCIDENCE

MOST COMMON CARDIAC MALFORMATION (Nelson’s says 25%, Toronto says 30-50%)

• Most are of the membranous portion of septum

Small VSD (majority)

• Clinical presentation:
o History: asymptomatic, normal growth, and development
o Physical exam: characteristic early systolic to holosystolic murmur, best heard at LLSE (VSD murmur), thrill
 Wayne Robinson, MBBS Class of 2015
• Investigations: ECG and CXR are normal
• Management: Most close spontaneously (30-50%)

BASIC PATHOPHYS
• Size of defect is a major determinant of L->R shunt
• Also level of pulmonary vascular resistance

• 2 types:
o Restrictive (usu. < 5mm): RV pressure is normal
o Nonrestrictive (usu. > 10mm): RV and LV pressure EQUAL and magnitude of shunt determined by ratio
of pulmonary to systemic vascular resistance

• Pulmonary vascular resistance high at birth so L->R shunt low at birth -> normally decreases due to
involution of the media of the small pulm. arterioles -> falls after 1st few weeks of life -> L->R shunt increases ->
symptoms develop.
• Continued exposure of pulmonary vessels to high pressure from shunt -> “pulmonary vascular obstructive
disease” develops -> PVR:SVR reaches 1:1 -> bidirectional flow -> eventually reversal (Eisenmenger)
• Pulmonary HTN occurs in 10% OF LARGE DEFECTS

CLINICAL FEATURES
• Small VSDS (SEE ABOVE)
• LARGE VSD:
o History: (Because of pulmonary HTN): Dyspnoea, poor growth/failure to thrive, profuse sweating
(sympathetic NS – see explanation above), recurrent pulmonary infections (why?)
o CHF by 2 months

EXAMINATION
• Left precordial bulge
• Laterally displaced apex beat, thrusting

• Characteristic early systolic to holosystolic murmur, best heard at LLSE (VSD murmur), thrill (Due to
flow through VSD)
• NOTE: SIZE OF VSD IS INVERSELY RELATED TO INTENSITY OF MURMUR
• [POSSIBLE: Mid-diastolic, low-pitched rumble at the apex is caused by increased blood flow across the mitral valve and indicates a
Qp:Qs ratio of ≥ 2:1]

INVESTIGATIONS
• Small VSD (See above)
• Large VSD:
o ECG: LVH + RVH + LAH
o CXR: Gross cardiomegaly with both ventricles prominent, increased pulmonary vasculature, frank
pulmonary oedema + pleural effusion
o ECHO diagnostic

MANAGEMENT

• Small VSD (See above)

• Large: Treatment of CHF and surgical closure by 1 yr old
• Treat CCF, FTT -> increased calories (prior to correction)

PATENT DUCTUS ARTERIOSUS (PDA)

INCIDENCE
 Wayne Robinson, MBBS Class of 2015

F > M, 2:1

BASIC PATHOPHYS

• Patent vessel between descending aorta and left pulmonary artery (normally, functional closure within first 15
hrs of life, anatomical closure within first days of life due to oxygen exposure inhibiting prostaglandins
which keep the ductus open in fetal life)

• The aortic end of the ductus is just distal to the origin of the left subclavian artery. Pulmonary end is
at the bifurcation of the pulmonary artery

• Association with maternal rubella infection!!! in early pregnancy

• PDA common in premature infants as smooth muscle of the ductus wall in preterm is less responsive to the high
pO2 after birth. BUT a PDA in term infants actually has defects of the media and endothelium compared to
normal PDA in preterm.

• As a result, PDA persisting in a term infant RARELY closes spontaneously or with pharmacologic intervention.
Whereas in preterm majority close spontaneously

• If small, pulmonary pressures, RV and RA pressures normal

• If large, pulmonary arterial pressures may be elevated to systolic levels. High risk of pulmonary
vascular disease if left unoperated

CLINICAL FEATURES
• Small usually asymptomatic. Large usually results in CHF (as seen in VSD)

History
• Growth retardation

EXAMINATION (For Large Defects)

• CCF in early infancy usually
• Hyperactive precordium
• Tachycardia
• Bounding peripheral pulses
• Wide pulse pressure. May be collapsing
• +/- Cardiomegaly if PDA large
• Thrill in 2nd LICS. Usu systolic
nd
• CLASSIC MURMUR: Continuous “machinery” murmur localized to 2 LICS or radiating to left
clavicle

INVESTIGATIONS
• ECG: May show LAE, LVH, RVH
• CXR: Normal to mildly enlarged heart, increased pulmonary vasculature, prominent pulmonary artery
• ECHO diagnostic

MANAGEMENT

• For preterm patients: Indomethacin (Indocid®): PGE2 antagonist (PGE2 maintains ductus arteriosus
patency)

• Term: Catheter or surgical closure if PDA causes respiratory compromise, FTT, or persists beyond 3rd month of
 Wayne Robinson, MBBS Class of 2015
life
• So ALL PDA in TERM patients require surgical closure whether small or large!! Different rationale for small and
large but still every one should be surgically closed if it is still patent after the 3rd month (to 1 year?) of life

B. OBSTRUCTIVE LESIONS

COARCTATION OF THE AORTA

INCIDENCE
• M > F, 2:1

BASIC PATHOPHYS
• Can occur at any point from transverse arch to iliac bifurcation!!
• BUT 98% occur just below the origin of the left subclavian artery at the origin of the ductus
arteriosus (juxtaductal)
• Coarctation may be a feature of Turner syndrome (**This is the most common cardiac defect in Turner’s!!!!)

• Associated with a bicuspid aortic valve in 70% of patients

• In patients with discrete juxtaductal coarctation, ascending aortic blood flows through the narrowed segment to
reach the descending aorta although LV hypertension and hypertrophy result

• Blood pressure is elevated in the vessels that arise PROXIMAL to the coarctation. Blood pressure as well as pulse
pressure is lower below the constriction

CLINICAL FEATURES
Often asymptomatic.

Generally 2 groups: Those who present early with heart failure and those who present later with HTN

• Neonates: Differential cyanosis (Pink upper and cyanotic lower extremities) is seen in a neonate with severe
coarctation of the aorta and with a large PDA with a right-to-left shunt into the descending thoracic aorta. Heart
failure, shock when PDA closes.
• Infants and children: Most asymptomatic. May be incidental finding based on investigation for HTN or murmur.
4-limb BP important.
• Adolescents and adults: Medscape: In this age group, BEST diagnosed clinically based on simultaneous
palpation of femoral and brachial pulses (Radiofemoral or brachiofemoral delay). Also, BP in both arms and 1 leg
must be determined. Pressure difference > 20 mmHg in favour of arms may be evidence of coarctation of
aorta.

EXAMINATION

• Classic sign is a disparity in pulsation AND blood pressure in the arms and legs
• Radiofemoral delay – NOTE: Normally the femoral pulse occurs slightly BEFORE the radial pulse

• In normal persons (except neonates), systolic BP in the legs is 10-20 mmHg higher than in the
arms. In coarctation, BP in the legs is lower than that in the arms. Frequently it is difficult to obtain

• It is important to determine the BP in each arm. REASON: A pressure HIGHER IN THE RIGHT than the left arm
suggests involvement of the left subclavian in the area of coarctation. Less commonly, the right subclavian may
arise anomalously from below the area of coarctation and result in a left arm pressure that is higher than the right
--
• Upper extremity systolic pressures of 140-145 mm Hg
 Wayne Robinson, MBBS Class of 2015
• Few have high BP in infancy (160-200 mm Hg systolic), but this decreases as collaterals develop
• Decreased blood pressure and weak/absent pulses in lower extremities
• Radial-femoral delay

• Absent or systolic murmur with late peak at apex or LSE, left axilla, and left back (Nelson’s says left
sternal border along 3rd and 4th ICS transmitted to left infrascapular region (on back auscultation))
• If severe, presents with heart failure/shock in the neonatal period when the ductus closes

INVESTIGATIONS
• ECG: Neonates - RVH. Older patients – LVH instead
• CXR: Cardiomegaly (usually after age 10). Pulmonary congestion. Descending aorta has a poststenotic
dilatation
o Notching of the inferior border of the ribs from pressure erosion by enlarged collateral vessels is
common by late childhood.
• ECHO diagnostic

MANAGEMENT
• Give prostaglandins to keep ductus arteriosus patent for stabilization and perform ->
• Surgical correction in neonates. For older infants and children balloon arterioplasty may be an alternative
to surgical correction.

AORTIC STENOSIS
INCIDENCE: M >F, 3:1
3 TYPES
• Valvular (75%), subvalvular (20%), supravalvular (least common)
• In valvular (most common), leaflets are thickened and the commissures are fused. LVH occurs in
compensation and as its compliance decreases, end diastolic pressure increases

CLINICAL FEATURES
• Depend on severity of obstruction
• Severe stenosis occurring early in infancy = “CRITICAL AORTIC STENOSIS” – associated with LVH and
signs of low cardiac output

HISTORY
• CHF features: Dyspnoea, orthopnoea, PND
• Exertional chest pain, syncope
• Sudden death

EXAMINATION
• Mild = Normal examination
• Weak pulses in ALL extremities
• CHF
• Displaced apex beat = Cardiomegaly
• Pulmonary oedema (crackles)
• Thrill assc with murmur below
• Ejection systolic murmur, URSE, radiates to neck with ejection systolic click at apex (only for
valvular!!)
• Possible 4th heart sound

INVESTIGATIONS
 Wayne Robinson, MBBS Class of 2015
• ECG: Normal or LVH
• CXR: Prominent ascending aorta (post-stenotic dilation). Heart size usually normal
• ECHO diagnostic

MANAGEMENT
• Valvular stenosis is usually treated with balloon valvuloplasty if moderate to severe
• Patients with subvalvular or supravalvular stenosis require surgical repair, exercise restriction required
• IE prophylaxis?

Pulmonary Stenosis (Copy/Paste from Toronto Notes)

• 3 types: valvular (90%), subvalvular, or supravalvular
• definition of critical pulmonic stenosis:
. inadequate pulmonary blood flow, dependent on ductus for oxygenation, progressive
hypoxia and cyanosis
• natural history: may be part of other congenital heart lesions (e.g. Tetralogy of Fallot) or in association with syndromes (e.g. congenital rubella,
Noonan syndrome)
• clinical presentation
.history: spectrum from asymptomatic to CHF
.physical exam: wide split S2 on expiration, SEM at ULSE, pulmonary ejection click (for valvular lesions)
• investigations:
.ECG: RVH
.CXR: post-stenotic dilation of the main pulmonary artery. Decreased pulmonary vascular markings
• management: surgical repair if critically ill, or if symptomatic in older infants/children

CYANOTIC CONGENITAL HEART DISEASE

General points to note:

Classify based on if pulmonary blood flow is increased or decreased

DECREASED (lesions include an obstruction to pulmonary blood flow + a pathway for shunting systemic venous blood
from right to left eg. a patent ovale, ASD, VSD): TOF, Tricuspid atresia, TAPVR with obstruction

INCREASED (lesions have no obstruction to pulmonary blood flow): Transposition of the great vessels, Truncus
arteriosus, TAPVR without obstruction

LESIONS WITH DECREASED BLOOD FLOW

TETRALOGY OF FALLOT
The primary defect is an anterior deviation of the infundibular septum (the muscular septum that separates the aortic
and pulmonary outflows). The consequences are the 4 components:
1. Pulmonary stenosis (Right ventricular outflow tract obstruction - RVOTO)
2. Ventricular septal defect (VSD)
3. Aortic root “overriding the VSD”
4. Right ventricular hypertrophy
[Complete obstruction of right ventricular outflow (pulmonary atresia with VSD) is classified as an extreme form of TOF]

INCIDENCE

10% of all CHD, most common cyanotic heart defect diagnosed beyond infancy with peak incidence at 2-4 mo of age

BASIC PATHOPHYS
 Wayne Robinson, MBBS Class of 2015
• The RVOTO is most commonly due to the subpulmonic/infundibular muscle known as the crista
superventricularis being hypertrophic. Contributes to a subvalvar stenosis.
• The aortic arch is right sided in 20% of cases. Aortic root is large and overrides the VSD

• ***Systemic venous return to the right atrium and ventricle is normal. When the right ventricle contracts in the
presence of marked pulmonary stenosis, blood is shunted across the VSD into the aorta. Persistent arterial
desaturation and CYANOSIS result, the DEGREE DEPENDENT UPON THE SEVERITY OF THE
PULMONARY OBSTRUCTION.

• ***NOTE: The degree of RVOTO also determines the 1) Timing of the onset of symptoms, 2) Direction of
shunt, 3) The severity of the cyanosis and 4) The degree of RVH!!

• Mild obstruction -> Patient may not be visibly cyanotic (Acyanotic or “pink” TOT). When severe, symptoms
begin from birth and worsen when ductus begins to close.

• [Often, cyanosis is NOT present at birth; but with increasing hypertrophy of the right ventricular infundibulum (which
worsens the RVOTO) as the patient grows, cyanosis occurs later in the 1st yr of life. In infants with severe degrees of right
ventricular outflow obstruction, neonatal cyanosis is noted immediately. In these infants, pulmonary blood flow may be
partially or nearly totally dependent on flow through the ductus arteriosus. When the ductus begins to close in the 1st few
hours or days of life, severe cyanosis and circulatory collapse may occur]

CLINICAL FEATURES

• History: Hypoxic “tet” spells (Nelson’s: aka. “Paroxysmal hypercyanotic attacks”/hypoxic/blue/tet spells) –
particular problem in first 2 years of life
o During exertional states (crying, exercise) the increasing pulmonary vascular resistance and decrease in
systemic resistance causes an increase in right-to-left shunting
o Clinical features include paroxysms of rapid and deep breathing, irritability and crying, increasing
cyanosis, gasping respirations, decreased intensity of murmur (decreased flow across RVOTO)
o If severe, can lead to decreased level of consciousness, seizures, hemiparesis, death

• Older children with long-standing cyanosis may have dusky blue skin, engorged blood vessels, marked
clubbing of fingers and toes. Dypnoea on exertion.
• ***Characteristically, children may assume a *squatting position for the relief of dyspnea

PHYSICAL EXAM

• Systolic thrill may be felt along the left sternal border in the 3rd and 4th parasternal spaces
• SINGLE, LOUD S2 due to severe pulmonary stenosis (i.e. RVOTO), (**Either the 2nd heart sound is single and
due to the aortic valve closure alone, or the pulmonic component is soft)
• Ejection systolic murmur (LSE) The murmur is caused by turbulence through the right ventricular outflow
tract. (Not from the VSD apparently) Tends to become louder, longer, and harsher as the severity of pulmonary
stenosis increases from mild to moderate; however, it can actually become less prominent with severe obstruction,
especially during a hypercyanotic spell due to shunting of blood away from the right ventricular outflow through
the aortic valve.

INVESTIGATIONS

• ECG: RAD, RVH

• CXR: Boot-shaped heart, decreased pulmonary vasculature, right aortic arch (in 20%)
• ECHO diagnostic

MANAGEMENT
 Wayne Robinson, MBBS Class of 2015
***Management of spells (past paper question):
Toronto: O2, knee-chest position, fluid bolus, morphine sulfate, propranolol

According to Nelson’s:
Depending on the frequency and severity one or more of the following procedures should be instituted in sequence:
(1) Placement of the infant on the abdomen in the knee-chest position while making certain that the infant’s clothing is not
constrictive,
(2) Administration of oxygen (although increasing inspired oxygen will not reverse cyanosis caused by intracardiac shunting), and
(3) Injection of morphine subcutaneously in a dose not in excess of 0.2 mg/kg.

• Because metabolic acidosis develops when arterial PO2 is < 40 mm Hg, rapid correction (within several minutes) with
intravenous administration of sodium bicarbonate is necessary IF the spell is unusually severe and the child shows a lack of
response to the foregoing therapy
• Calming and holding the infant in a knee-chest position may abort progression of an early spell. Premature attempts to obtain
blood samples may cause further agitation and be counterproductive.

***HOW THE KNEE-CHEST POSITION WORKS: It simulates squatting. So in this position BOTH the femoral artery and the femoral vein are
kinked. Each of these has a significance. Kinking of the femoral vein reduces venous return to the right side of the heart, resulting in an overall
decrease in blood volume in the heart. Kinking of the femoral artery results in an increase in systemic vascular resistance in the upper limbs, which
increases the pressure that the left heart has to contract against (the afterload). Combining the decreased blood volume in the heart with the increased
systemic outflow pressure results in a decrease in the right to left shunting which is causing the cyanosis.

Definitive: Surgical repair at 4-6 months of age; earlier if marked cyanosis or “tet” spells

COMPLICATIONS
Nowadays rare. Were more common before the age of corrective surgery:
• Cerebral thrombosis
• Bran abscess
• Bacterial endocarditis in the right ventricular infundibulum mainly

LESIONS WITH INCREASED PULMONARY BLOOD FLOW

Transposition of the Great Arteries (TGA) – (Copy/paste from Toronto Notes)

EPIDEMIOLOGY
• 3-5% of all congenital cardiac lesions, most common cyanotic CHD in neonate

PATHOPHYSIOLOGY:

• Parallel pulmonary and systemic circulations (as opposed to in series, which is normal)
• Systemic: Body !>#RA !>#RV !>#aorta !>#body
• Pulmonary: Lungs !>#LA !>#LV !>#pulmonary artery !>#lungs
• **Survival is dependent on mixing through PDA and/or ASDs or VSDs
 Wayne Robinson, MBBS Class of 2015
PHYSICAL EXAM:

• Neonates: ductus arteriosus closure causes rapidly progressive severe hypoxemia unresponsive to oxygen
therapy, acidosis, and death
• VSD present: Cyanosis is not prominent; CHF within first weeks of life
• VSD absent: No murmur

INVESTIGATIONS:

• ECG: RAD, RVH, or may be normal

• CXR: Egg-shaped heart with narrow mediastinum (“egg on a string”)
• ECHO diagnostic

MANAGEMENT:
• Symptomatic neonates: Prostaglandin E1 infusion to keep ductus open until balloon atrial
septostomy
• Surgical repair: “ARTERIAL SWITCH” performed in the FIRST TWO WEEKS in those without a
VSD while LV muscle is still strong

TOTAL ANOMALOUS PULMONARY VENOUS RETURN

BASIC PATHOPHYS

• Abnormal development of the pulmonary veins may result in either partial or complete anomalous drainage into
the systemic venous circulation

• TAPVR is associated with total mixing of systemic venous and pulmonary venous blood flow within the heart and
thus produces cyanosis

• In TAPVR, the heart has NO DIRECT pulmonary venous communication into the left atrium

• Instead, the pulmonary veins may drain ABOVE the diaphragm into the right atrium directly, into the coronary
sinus, or into the SVC via a “vertical vein”, or they may drain BELOW the diaphragm and join into a “descending
vein” that enters into the IVC or one of its major tributaries, often via the ductus venosus.

• All forms of TAPVR involve mixing of oxygenated and deoxygenated blood before or at the level of the right
atrium

POINT: A PATENT FORAMEN OVALE OR ASD MUST BE PRESENT FOR ANY BLOOD TO REACH INTO THE
LEFT ATRIUM AND INTO THE SYSTEMIC CIRCULATION OR ELSE THE CONDITION IS FATAL

TREATMENT

• Surgical repair in all cases during infancy

• Emergent repair for severe cyanosis/venous obstruction

TRUNCUS ARTERIOSUS
BASIC PATHOPHYS
 Wayne Robinson, MBBS Class of 2015
• A single arterial trunk (truncus arteriosus) arises from the heart and supplies the systemic, pulmonary and
coronary circulations.

• A VSD is always present with the truncus receiving blood from both the right and left ventricles
• Both ventricles are at systemic pressure and both eject blood into the truncus

• When pulmonary vascular resistance is relatively high immediately after birth, pulmonary blood flow may be
normal. As pulmonary resistance drops in the first month of life, blood flow to the lungs is greatly increased and
heart failure ensues.

CLINICAL FEATURES

• Clinical picture dominated by features of heart failure with mild cyanosis in early life.
• Wide pulse pressure and bounding pulses
• Heart usually enlarged and precordium hyperdynamic
• 2nd heart sound usually loud and single. (Due to the single arterial trunk)
• Ejection systolic murmur +/- thrill usually audible along LSB
• Truncus arteriosus may be associated with DiGeorge syndrome

DIAGNOSIS
• ECG: RVH/LVH/combined VH
• CXR: Cardiomegaly, right sided aortic arch in 50%, prominent shadow produced by truncus, pulmonary
vascularity increased after first few weeks of life

TREATMENT
• Surgical repair within first 6 weeks of life
Paediatrics
Cough, Cold, SOB Jottings
**USE 3RD YEAR PAEDS DOCUMENT FOR THIS TOPIC**

RE: Differential Dx/Thought process for cough/cold/SOB

CLASSIFY CLASSIFY CLASSIFY!!

Think/Answer by system:
1. Resp.
2. Cardio
3. GI
4. Etc.

Re: Respiratory Disorders (List is NOT exhaustive)

Acute vs. Chronic

• ACUTE
o Upper RT (Think of all structures from outside in – Ears, nose, sinuses, pharynx etc.)
! Infectious
• Viral
o Otitis media
o Common Cold (Rhinopharyngitis)
o Tonsillitis
o LTB
• Bacterial
o OM
o Tonsillitis
o Epiglottitis
o Bacterial tracheitis
• Other
! Non- Infectious
o Lower RT
! Infectious
• Viral
o Bronchiolitis
o Bronchopneumonia
• Bacterial
o Pneumonia
o Lung abscess
o Empyema
• Other
! Non-infectious

• CHRONIC
o UPPER
! Infectious
! Noninfectious
o Lower
! Infectious
• Viral
o HIV – Lymphocytic Interstitial Pneumonia
• Bacterial
o TB
• Protozoan
o PCP
! Noninfectious
• Bronchiectasis
• Cystic Fibrosis
• Ciliary disorders

Acute&

Upper&RT& Lower&RT&

Infectious& NonC&Infectious& Infectious& NonCinfectious&

Viral& Bacterial& Other& Viral& Bacterial& Other&

Otitis&media& OM& Bronchiolitis& Pneumonia&

Common&Cold&
(Rhinopharyngitis)& Tonsillitis& Bronchopneumonia& Lung&abscess&

Tonsillitis& Epiglottitis& Empyema&

LTB& Bacterial&tracheitis&
Paediatrics Croup, Epiglottitis, Laryngitis, Bacterial Tracheitis Sources: Nelson’s, Toronto Notes Wayne Robinson, Class of 2015
!
CROUP (LARYNGOTRACHEOBRONCHITIS) BACTERIAL TRACHEITIS EPIGLOTTITIS
Anatomy Subglottic Subglottic tracheitis Supraglottic
Epidemiology Most pts: 3 months – 5 years Rare VERY rare now due to Hib vaccine
nd
Peak in 2 year
M>F Prevaccine: 2-4 y.o
Most common form of acute upper resp. obstruction!! Now: Adults more common
Aetiology Parainfluenza virus – 75% STAPH AUREUS most common In the past: H. influenzae type B was most
common
Others: Also: Non-typable H. influenzae
- Influenza A (assc. with severe LTB) and B Moraxella catarrhalis Since vaccine:
- Adenovirus, RSV, Measles **Often follows a VIRAL infection Strep pyogenes, strep pneumoniae, staph aureus
Clinical Some use “LT” for common form and “LTB” for severe Potentially life-threatening DRAMATIC, POTENTIALLY LETHAL
Features CONDITION:
Common Prodrome: Rhinorrhoea, pharyngitis, mild Similar symptoms to croup BUT more rapid
cough, low-grade fever for 1-3 days before signs of upper deterioration with: - Acute, rapidly progressive
airway obstruction. Some children afebrile • High fever - TOXIC appearance
• Toxic appearance - High fever, sore throat, rapid obstruction
*** Then characteristic *barking cough, *hoarse voice, 4 Ds!!! (Must know):
*inspiratory stridor **Does NOT respond to croup treatments 1. Dysphagia
(because this is a bacterial infection) 2. Drooling
Symptoms characteristically worse at night. Usually 3. Distress – All the usual features
resolves within a week Also: NO drooling, NO dysphagia as in 4. Dysphonia
epiglottitis
Other family members may have a mild respiratory illness. - Stridor is a LATE finding
Older children not seriously ill due to larger airways - Neck hyperextended to maintain airway
Also:
Exam: Hoarseness, coryza, ENT: inflamed pharynx. Slight - Tripod position! – sit upright and lean forward
increased resp. rate. with chin up and mouth open while bracing on
RARE: Obstruction progresses -> Nasal flaring, SS, IS, IC, arms
SC recession, biphasic stridor - Cyanosis
- Coma
Rarely, severe LTB difficult to differentiate from epiglottitis Most patients have concomitant bacteraemia
Investigations CLINICAL DIAGNOSIS – Does NOT require CXR/Neck Diagnosis requires laryngoscopy IN OT OR
XR ICU!!
- Large, cherry red, swollen epiglottis
Neck XR: Typical subglottic narrowing – Steeple sign AVOID EXAMINING THROAT UNTIL AIRWAY
- Used in pts with atypical clinical course SECURE to prevent exacerbation
Classic XR: “Thumb sign”
Blood and epiglottic surface cultures!!
Management - MAIN: Airway mgmt. and treatment of hypoxia FIRST! Intubation may be necessary in 50-60%. O2 IMMEDIATE INTUBATION OR TRACHEOSTOMY
- Humidified O2 usu necessary IN ALL PATIENTS WITH EPIGLOTTITIS!!!!
Mortality rate now almost 0 due to this
- Oral corticosteroids – 1 PO dose dexamethasone – IV antibiotics!! in all patients incl anti Generally intubated for 2-3 days
Reduce oedema through anti-inflammatory action staphylococcal agents
- Nebulized epinephrine – reduces laryngeal edema Empiric antibiotics!!: Ceftriaxone, cefotaxime,
Intubation if unresponsive (RARELY NEEDED) Vancomycin & nafcillin or oxacillin meropenem then culture directed. 7-10 days
Paediatrics Croup, Epiglottitis, Laryngitis, Bacterial Tracheitis Sources: Nelson’s, Toronto Notes Wayne Robinson, Class of 2015
!
DEFINITIONS
Croup: A GROUP of acute or infectious processes characterized by a barking or brassy cough and may be associated with hoarseness, inspiratory stridor and respiratory
distress. Typically affects larynx, trachea and bronchi. Have spasmodic croup (may be allergic +/- viral) vs. LTB (almost always viral)
Stridor: A harsh, high-pitched respiratory sound, usually on inspiration but may be biphasic, produced by turbulent flow
Some general points:
• With the exceptions of diphtheria, bacterial tracheitis and epiglottitis, most acute infections of the upper airway are caused by viruses.
• Recall: Airway RESISTANCE is inversely proportional to radius of the airway to the 4th power. So two things: Smaller airway in child has exponentially greater
resistance compared to adult and any further slight decrease in lumen due to oedema or other inflammation causes further exponential increase in resistance
• Larynx: 4 major cartilages: Superior to inferior: Epiglottis, arytenoid, thyroid, cricoid
• ***Narrowest portion of upper airway in a child < 10 years old is cricoid cartilage
o Inflammation INFERIOR to the vocal cords: Laryngitis, laryngotracheitis or Laryngotracheobronchitis
o SUPERIOR: Eg. Epiglottitis = Supraglottitis
Not in table:
ACUTE INFECTIOUS LARYNGITIS
• Common illness. Viruses cause most cases. Diphtheria is exception but extremely rare.
• Physical exam unremarkable except for pharyngeal inflammation
• Subglottic area is main site of obstruction
SPASMODIC CROUP
• Most common in 1-3 y.o
• Similar clinically to acute LTB – except history of viral Prodrome usually absent
• Cause is viral in some cases. Allergy important in others
Differential diagnosis of all the above:
• Bacterial tracheitis is the most important differential
• Foreign body aspiration – sudden onset of resp obstruction
• Retropharyngeal abscess – CT helpful
• Peritonsillar abscess – clinical diagnosis
• Occasionally, upper airway obstruction associated with angioedema of the subglottic areas as part of anaphylaxis and generalized allergic reactions.
• Trauma
• Tumours of larynx
 Paediatrics Development (Harriet Lane (Pg. 224 – Chapter 9)) September 2014 Wayne Robinson, MBBS Class of 2015
DEVELOPMENTAL MILESTONES
Age Gross Motor Fine-Motor/Problem-Solving Language Social/Adaptive
(Expressive vs. Receptive)
1 - Raises head from prone position - Visually fixes - *Alerts to sound (To test: clap from behind) - Regards face
mth - *Follows to midline
- *Tight grasp
2 - Holds head in midline - *Follows objects past midline - Smiles socially (ie. after being stroked or talked to) - Recognizes parent
- Lifts head and chest off table - *No longer clenches tightly
o
3 - Holds head up steadily - *Follows in circular fashion (180 ) - Coos (produces long vowel sounds in musical - Reaches for familiar people
- Supports on forearms in prone - Responds to visual threat fashion) or objects
position - *Hands open at rest - Anticipates feeding
4 - Rolls over - Reaches with arms in unison - Laughs - Enjoys looking around
- Supports on wrists, shifts weight - Brings hands to midline - Orients to voice
st
6 - Sits unsupported, puts feet in mouth - Unilateral reach - Babbles, ah-goos (1 consonants), razz? - Recognizes that someone
in supine position - Uses raking grasp - Lateral orientation to bell is a stranger
- **Transfers objects
st
9 - Pivots when sitting - Immature pincer grasp - Says “mama, dada” indiscriminately (1 words) - Starts exploring
- Pulls to stand, cruises - Probes with forefinger - Gestures, waves bye-bye environment
- Holds bottle, throws objects - Understands “no” - Plays gesture games
12 - Walks forward alone - Mature pincer grasp - Uses 2 words other than “mama, dada” or proper - Imitates actions
(1 yr) - Can make crayon mark nouns - Comes when called
- Releases object voluntarily - Jargoning (runs several unintelligible words - Cooperates with dressing
together with tone or inflection)
- One-step command with gesture
15 - Walks backward independently - Scribbles in imitation - Uses 4-6 words - Uses spoon and cup
- Creeps up stairs - Builds tower of 2 blocks in imitation - One-step command without gesture
18 - Runs - Scribbles spontaneously - 7-10 words - Copies parent in tasks
- Throws objects from standing w/o - Builds tower of 3 blocks - Mature jargoning (includes intelligible words) (sweeping, dusting)
falling - Turns 2 or 3 pages at a time - Knows **5 body parts - Plays in company of others
2 yrs - Walks up and down stairs without - Imitates stroke with pencil - 50 words - Parallel play
(24m) help - Builds tower of 7 blocks - (2) Two-word sentences
- Kicks ball (online source) - Turns 1 page at a time - Uses pronouns inappropriately
- *Removes shoes, pants, etc. - (2) Two-step commands
3 yrs - *Alternates feet going UP steps - Copies a circle - At least 250 words - Group play
- Pedals tricycle - *Undresses completely, *unbuttons - (3) Three-word sentences - Shares toys, takes turns
- Dresses partially - Uses plurals, knows all pronouns - Plays well with others
- Repeats 2 digits - Knows full name, age,
gndr
4 yrs - *Alternates feet going DOWN steps - Copies a square - **Knows colours - Tells “tall tales”
- Hops, skips - *Dresses self completely, *buttons - Song/poem from memory - Plays cooperatively with a
- *Catches ball - Asks questions group of children
5 yrs - Skips alternating feet - Copies triangle - Writes own first name - Plays competitive games,
- Jumps over low obstacles - **Ties shoes - Asks what a word means follows rules, likes to help in
- Spreads with knife household tasks
 Paediatrics Development (Harriet Lane (Pg. 224 – Chapter 9)) September 2014 Wayne Robinson, MBBS Class of 2015
PRIMITIVE REFLEXES
Playlist with primitive reflexes (Did not watch any – Not sure if good): https://www.youtube.com/playlist?list=PLz27Rlp3y6XsmcPui7cR2PfumjJwEZSjZ
Also in the chapter:
• Common age-specific problems: Tells the age for tantrums, nightmares etc
• INTELLECTUAL DISABILITY VS LEARNING DISABILITY
• ANOTHER CLASSIFICATION OF CEREBRAL PALSY
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Down Syndrome Notes
Sources: Dr. Pryce (May Pen) ward rounds, Random PDF
October 2014

DOWN SYNDROME (47, XX, +21 OR 47 XY, +21)

1:600-800 live births - **Most common autosomal chromosomal abnormality

- Rises with advanced maternal age: 1:1500 @ 20 to 1:20 @ 45 (although 80% are born to mothers < 35 years)
- 75% of fetuses with Trisomy 21 abort spontaneously
- *Most cases diagnosed in newborn period

GENETICS

3 types of mutation cause Downs (MUST KNOW!!!):

1. Nondisjunction: Most common (95%)

o 80% maternal, 20% paternal
o 1% recurrence risk

2. Translocation (3-4%)
o Recurrence risk: 100% in a parent with 21:21 translocation (ALL offspring will have Downs)

3. Mosaicism (1-2%)
o Due to nondisjunction after meiosis

DYSMORPHISMS AND ABNORMALITIES IN DOWN’S SYNDROME

(See the PDF on Down’s syndrome. Some of the info edited into this)

HEAD
1. Brachymicrocephaly: Affects occiput -> Flat, short, broad
2. Microcephaly
3. Hypoplastic midface (lead to obstructive sleep apnoea, rhinosinusitis, nasolacrimal duct obstruction)
4. Low posterior whorl
5. Classically have a 3rd fontanelle
6. Delayed closure of fontanelles
7. Splayed sutures

EYES
1. Ocular hypertelorism: Hypertelorism refers to an abnormal increase in distance between any two organs
although some authors use the term synonymously with orbital hypertelorism. Wide inter-pupillary distance.
May be assessed at bedside - see if a third eye can fit between
2. Upslanting of eyes
3. Present medial epicanthic fold
4. Strabismus (60%)
5. Brushfield spots in iris (speckling of iris) - Almost pathognomonic
6. Pupil and iris: Coloboma -> Looks like a keyhole pupil
7. Cornea: Keratoconus

8. Visual disturbances: Congenital cataracts, congenital nystagmus, refractive errors (50%) myopia
9. Dacrocystitis: Important to know:!Inflammation of the nasolacrimal sac, frequently caused by nasolacrimal duct
obstruction or infection
10. Blepharitis (eyelid inflammation)
 Wayne Robinson, MBBS Class of 2015
EARS:
1. Microtia (small ears)
2. Low-set
3. Overfolding of the superior helix
4. Posteriorly rotated

Other problems:
5. Sensorineural hearing loss
• But also susceptible to conductive due to mid face abnormalities and the characteristic Eustachian tube
dysfunction
6. Recurrent otitis media

NOSE
1. Flat nasal bridge

MOUTH and TEETH

1. Small mouth with protruding tongue. So not true macroglossia (Relative macroglossia (?%))
2. Hypodontia (Missing teeth) (50%)
3. Delays and alterations in sequence of tooth eruption

FACE

1. Hypoplastic mid-face

SMALL CHIN (Micrognathia - and it recedes (displaced backward), so called:)

1. Microretrognathia

CHEST

1. Funnel or pigeon breast

HANDS
1. Clinodactyly: Due to hypoplasia of the middle phalanx (Short, incurved little fingers)
2. Brachydactyly (Short, broad hands)
3. Simian crease (single) or may have a transverse palmar crease

4. Tri-radius is distally placed

5. Have ulnar loops (normal people have upward or radial loops)

FEET
1. Sandal gap between 1st and 2nd toes and Sandal crease at same place
2. Open field hallux?

SYSTEM BY SYSTEM ABNORMALITIES

CNS/NEUROLOGIC:
1. HYPOTONIA in 100% - at birth, in infancy, and as a toddler (Improves with age) – may delay milestones
2. Low IQ (25-70)/Intellectual disability (Mental retardation)
3. Global developmental delay – Gross motor due to hypotonia, 75% have expressive language disability
4. Seizures in 10% = Generalized myoclonic most common
5. Behaviour problems: Aggression, depression
6. Alzheimer’s > 35 y.o
 Wayne Robinson, MBBS Class of 2015
CVS (40-50%):
1. Structural
• AVSD (49%) (most common) > VSD (22%) > ASD
• Others: PDA, mitral valve prolapse, aberrant subclavian artery

2. Complications: Pulmonary HTN ! cor pulmonale

GI:
Think all the atresias of the tract

Top 3:
1. Duodenal atresia (most common), 2. Annular pancreas 3. Imperforate anus
- Also Hirschsprung’s, oesophageal atresia, Meckel’s diverticulum

GU:
1. Kidney:
a. Ureteropelvic junction (UPJ) obstruction with hydronephrosis

2. External Genitalia:
a. Cryptorchidism
b. Hypospadias
c. Small penis and scrotum
d. Infertility

HAEMATOLOGIC:

1. 1% Risk of leukaemias:
o < 2 yrs AML > ALL
o > 2 yrs ALL > AML
o Also can have leukemoid reaction!!! Must test to differentiate leukaemia and leukaemoid reaction

2. Also possible “Transient (Congenital) Leukaemia” – Acute Megakaryoblastic Leukaemia (AMKL)

• Presence of a large number of megakaryoblasts in the peripheral blood
• 100% remission rate in 1st weeks of life
• Occurs only in Downs syndrome

3. Polycythaemias

ENDOCRINE:

1. Thyroid dysfunction (15%)

• Hypothyroidism – often due to lymphocytic thyroiditis
• Most present after 1st decade. But can be congenital

2. Growth disorders
a. Short stature – at or near 3rd % for population
• Decreased growth velocity
• There are specific growth charts for Down syndrome
b. Obesity

3. Sexual maturation:
• Males: No documented male has reproduced?? – Need newer info on this. Also see GU above
• Female: Normal sexual maturation and development. BUT fertility RARE but reported. Pregnancy possible
with a 50% chance of Trisomy 21 occuring??
 Wayne Robinson, MBBS Class of 2015

OTHER MUSCULTOSKELETAL ABNORMALITIES

1. See hands and feet above

2. **Atlantoaxial instability (14%) important!! - Increased distance between C1 & C2 ! increased risk of spinal
cord injury. So must avoid contact sports

3. *Spinal cord compression (1-2%)

4. *Dysplastic hips

**Know about prenatal diagnosis of Down’s

PRENATAL SCREENING/DIAGNOSIS

1. Nuchal translucency (look up)

2. Maternal serum tests (look up)
3. Chorionic Villus Sampling (at 9-12 weeks)
4. Amniocentesis (at 16-18 weeks)

Indications:
• Advanced maternal age > 35
• Previous child with Trisomy 21
• Balanced Translocation in parent
• Prenatal U/S findings suggesting Trisomy 21
• Abnormal triple screen suggesting Downs

INVESTIGATIONS

Need to karyotype baby AND both parents

• Chromosomal analysis to confirm diagnosis (can be performed from birth)
• REASON for karyotyping parents: 3 types of mutation cause Downs (MUST KNOW):
• Checking for genetic abnormality in parents to help predict recurrence risk
• ***If parent has 21-21 translocation, ALL the children will have Down’s

Imaging

• ALL patients must have Chest x-ray, ECHO regardless and cardio consult in first few days of life!!!
• Others (GI): Abdominal x-ray, barium swallow/enema
• Renal: Renal U/S
• Skeletal x-rays: C-spine: Atlanto-dens space > 5 mm suggests atlantoaxial instability (start at age..?)

Serum

• MUST have CBC with blasts!!!! – in neonatal period then annually

o Risk of leukemias:
" < 2 yrs is AML
" > 2 yrs ALL
o Also can have leukemoid reaction!!! Must test to differentiate leukemia and leukemoid reaction

• TFTs (TSH, T3, T4) at birth, 6 and 12 months, then annually

 Wayne Robinson, MBBS Class of 2015
Other investigations referrals at birth:
• Eye examination for red reflex from birth. Then refer all to ophthalmologist
• Referral to ENT and hearing screen from neonate. Audiology again at 6 monthly until age..?

**NEED TO KNOW HOW TO COUNSEL PARENT!!**

[Fairly common OSCE station]

General overview:
- Greet and ask parent if she knows why we are here
- Ask what she already knows about Down’s
- Tell parent what Down syndrome is AND how it was diagnosed (Clinically, NT, CVS)
- Be empathetic – say you know it must not be easy
- Discuss how the child got it (and that it is not the parents’ fault and was not preventable) – but mention maternal
age
- Point out the features on the child
- Discuss the other possible features/problems that may develop
o *Remember to address developmental delay expectation
- Discuss all investigations required – in newborn period and in future (including karyotyping of parents and child)
- Discuss risk of recurrence (based on the karyotyping)
- Discuss management of the issues
- Ask about parent coping/feelings! Recommend support groups as well
- Ask if any questions/if patient understands
- Ask for a summary
- Plan for follow-up
- Close interview

Point out all the features of Down’s on the child

Discuss what other problems to expect (Remember system by system)

Some pointers:
• Need to tell them patient won't develop at normal times (GDD)
• MUST!! reassure/advise to expect missing teeth/irregular eruption is common!!
• Also have dental enamel abnormalities - may mistake them for caries
• Important to mention risk of respiratory infection
Later on:
• Atlanto axial stability, testing for it and need to avoid all contact sports, trampolines, c-spine instability
• Behavioural problems, ADHD, OCD

Discuss other tests (Just think system by system of all the possible abnormalities and how you would test for them)
• The ones at birth, then repeat in 6 months, then yearly, then at 4 years etc.
• Karyotyping of child and parents from newborn
• Eye examination for red reflex from birth. Then refer all to ophthalmologist
• Referral to ENT and hearing screen from neonate. Audiology again at 6 monthly until age..?
• Regular health maintenance visits
• Physical, occupational and speech therapy as indicated
• CBC to rule out transient myeloproliferative disorder, polycythaemia – birth then annually
• TSH at birth, 6 and 12 months, then annually
• Pneumococcal vaccine (PPV-23) at 2-4 years if chronic cardiac or pulmonary disease

****Need to karyotype baby AND both parents!!! Tell them it is expensive in Jamaica
• Chromosomal analysis to confirm diagnosis (can be performed from birth)
• REASON for karyotyping parents: 3 types of mutation cause Downs (MUST KNOW):
o Checking for genetic abnormality in parents to help predict recurrence risk
• ***If parent has a 21-21 translocation, ALL his/her children will have Down’s
 Wayne Robinson, MBBS Class of 2015
Discuss referrals
• Geneticist, paediatrician, Jamaica Down Syndrome Foundation
• Support groups with other parents of Down
• Books, pamphlets

Discuss follow-up

Discuss management
!
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Failure to Thrive: Short Pointers
Sources: Lecture, Toronto, Oxford

October 2014
**Use this with the lecture. Go through the lecture to review how to take the history and examination**

DEFINITIONS (Important: No consensus definition exists – but all consider age and sex)

Lecture & Toronto Notes use the same definitions. Dr. Olugbuyi: “Must know them ALL”:

1. Weight for age < 3rd percentile on the NCHS growth chart (National Centre for Health Statistics)

2. Weight for height < 5th percentile on the NCHS growth chart

3. Weight for age or height < 80% of ideal (ie. 50th percentile)

4. Weight: Downward crossing of 2 or more MAJOR percentile curves on NCHS chart (Fall off from previously
established growth curve)

5. Zero growth velocity for 6 months or more

6. Triceps skin fold thickness < 15 mm

*Oxford: Weight is the most sensitive indicator in infants and young children, whilst height is better in the older child.

In infancy, birth weight reflects the intrauterine environment. It is a poor guide to the child’s correct ‘genetic potential’
and weight may naturally fall until the correct ‘level’ is attained. In a well, happy child consider constitutional small
stature (characterized by normal growth velocity in a healthy child of small stature parents).

PATHOGENESIS UNCLEAR:

1. Inadequate energy intake

2. Inadequate absorption/utilization/excess loss (Eg. diarrhoea)
3. Excess energy utilization

Or a combination

Oxford: 95% of true FTT is due to not enough food being offered or taken

CLASSIFICATION OF FTT

1. Psychosocial/Nonorganic (NOFTT)
2. Organic (OFTT)
3. Mixed (MOFTT)

***!Remember in family history: Parental height and weight including mid-parental height
*** Don’t forget psychosocial history!!

RE: MID-PARENTAL HEIGHT

Mid-Parental Height (MPH)

• Boys’ target height = (father ht + mother ht + 13)/2
• Girls’ target height = (father ht + mother ht -13)/2
 Wayne Robinson, MBBS Class of 2015

ORGANIC CAUSES OF FTT (**ALSO SEE SLIDES 27-35 OF LECTURE**)

1. Inadequate consumption:
a. Decreased appetite, e.g. psychological or secondary to chronic illness.
b. Inability to ingest, e.g. GI structural or neurological problems.

2. Malabsorption – Coeliac disease etc.

3. Impaired utilization, e.g. Various syndromes, inborn errors of metabolism, endocrinopathies.

4. Increased energy demand/requirements, e.g. Congenital heart disease, cystic fibrosis, hyperthyroidism,
malignancy, infections/sepsis

5. Excessive food loss, e.g. Severe vomiting (gastro-oesophageal reflux disease (GERD), pyloric stenosis,
dysmotility), diabetes mellitus (urine).

Management: Thorough Hx, exam and treat the underlying cause

NON-ORGANIC FTT

Results from complex factors in parent-child relationship

• Dietary intake, knowledge about feeding
• Feeding environment
• Parent-child interaction, attachment
• Child behaviours, hunger/satiety cues
• Social factors – stress, poverty

Management
Most as outpatient using multidisciplinary approach: primary care physician, dietitian, psychologist, social work, child
protection services
• Medical: Oromotor problems, iron-deficient anemia, gastroesophageal reflux
• Nutritional: educate about age-appropriate foods, calorie boosting, mealtime schedules and environment to reach
goal of 90-110% IBW, correct nutritional deficiencies, and promote catch-up growth/development behavioural:
positive reinforcement, mealtime environment
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Febrile Seizures Notes
Source: Nelson’s (p. 2088 of 2682), Oxford
September 2014

DEFINITION

Febrile seizures: Seizures that occur:

1. Generally between age 6 months to 5 years with a

2. Temperature > 38oC
3. That are NOT due to CNS infection or any metabolic imbalance AND
4. Occur in the absence of a history of prior afebrile seizure

Types: SIMPLE and COMPLEX (different meanings from when used in general seizures classification)

1. Simple febrile seizure: Primary generalized seizure, usually tonic-clonic, that lasts < 15 minutes and does NOT
recur within a 24 hour period

2. Complex febrile seizure: More prolonged (> 15 minutes), +/- focal, and/or recurs within 24 hours

3. Febrile status epilepticus: lasts > 30 minutes (Oxford says 10 minutes)

• *Also “atypical febrile seizure”: Differs in some other way from the above, such as lower temperature than usual, unusual
age of the child, etc.

Important points:

• Simple febrile seizures do NOT confer increased risk of mortality

o ***Also, there are NO LONG-TERM ADVERSE EFFECTS of having simple febrile seizures. Ie.
***Recurrent simple febrile seizures do NOT damage the brain

• BUT Complex febrile seizures have a 2-fold increase in mortality over next 2 years

• Most febrile seizures last a minute or two, but it can be just a few seconds.

[NOTE: When referring to afebrile seizures, simple and complex refer to types of partial seizures. Simple = no LOC.
Complex = LOC]

INCIDENCE
• 2-5% of infants have at least one febrile seizure

Recurrence rate:
• ~30% after 1 episode
• 50% after 2 or more
• 50% if < 1 yr old at 1st febrile seizure

NOTE: Only 2-7% develop epilepsy later in life

AETIOLOGY

• Genetic factors supported by positive family history

o Many inherit it as an autosomal dominant trait
 Wayne Robinson, MBBS Class of 2015
Other important points:

RE: EPILEPSY FOLLOWING FEBRILE SEIZURES

*** A few epilepsy syndromes start with febrile seizures:

1. Generalised Epilepsy with Febrile Seizures Plus (GEFS+)

• AD, presents in childhood, and stops in childhood
• Has multiple febrile and afebrile seizures of all types

2. Severe Myoclonic Epilepsy of Infancy (SMEI) aka Dravet syndrome

• Most severe of the spectrum of “febrile seizures plus”. One of the most severe epilepsy starting in
infancy
• Onset is in 1st yr
• Febrile + afebrile, unilateral clonic seizures recurring every month
• Longer and more frequent than usual febrile convulsions
• Assc with myoclonus, absences and developmental delay follows
• Good point: Many patients thought to have “vaccine encephalopathy” (seizures after a vaccine) actually
found to have Dravet mutations. This has raised doubt about the very existence of vaccine encephalopathy

3. Temporal lobe epilepsy (secondary to mesial temporal sclerosis)

*** MUST KNOW: Risk factors for development of subsequent epilepsy (Blue = ones from the lecture):
• **Neurodevelopmental delay/problems prior to 1st febrile seizure – 33%
• Focal complex febrile seizure – 29%
• **Family history of epilepsy – 18%
• **Complex febrile seizure, any type – 6%
• Recurrent febrile seizures – 4%
• Fever < 1 hr before febrile seizure – 11%
• Simple febrile seizures – 1%

WORKUP

1. Detailed history
2. Thorough general and neuro exam
3. Manage acute febrile seizure and acute illness (first aid, midazolam, diazepam, lorazepam)
4. Determine risk factors for recurrence
5. Determine risk factors for future epilepsy
6. Counsel

*** KNOW: Febrile seizures often occur in the context of:

• Otitis media
• Roseola & HHV-6 infection
• Shigella
• Similar infections

MUST KNOW RE: LUMBAR PUNCTURE

*** POINT: Lumbar puncture recommended in all children < 12 months old after their
first febrile seizure***
 Wayne Robinson, MBBS Class of 2015

REASON: To rule out meningitis. Especially if the patient has received prior antibiotics that would mask the clinical
symptoms of meningitis. In general in this age group, signs of meningitis may not be present either way.
• Up to 18 months of age should be considered for LP!! Because the symptoms of meningitis may still be
subtle in this age group.

• **For children > 18 months an LP is indicated in the presence of clinical signs and symptoms of meningitis (eg.
neck stiffness, Kernig sign, Brudzinski sign)

RE: EEG

• NOT indicated IF the child is presenting with the 1st simple febrile seizure and is otherwise well

• EEGs performed within 2 weeks of a febrile seizure often have nonspecific slowing. If EEG indicated, should
defer 2 weeks. Restricted to cases in which epilepsy is highly suspected

RE: Blood studies

• According to Nelson’s, even CBC and U&Es are not routinely recommended with the 1st simple febrile seizure

RE: Neuroimaging:

• CT or MRI not recommended in child with 1st simple febrile seizure

• May be indicated in complex febrile seizure

MANAGEMENT

In general, antiepileptic therapy is NOT RECOMMENDED in children with one or more simple febrile
seizures.

• Parents should be counseled.

• If the seizure lasts for > 5 minutes, acute treatment with diazepam, lorazepam or midazolam is needed.
Often rectal diazepam prescribed at the time. Or buccal/intranasal midazolam which parents prefer.

• For febrile status epilepticus (> 10 (or 30?) minutes)

o IV benzodiazepenes, phenobarbital, phenytoin or valproate may be needed

• Medications to prevent future febrile seizures rarely ever justified even in future febrile illnesses. Little evidence
to support use

• NOTE WELL: Antipyretics can decrease discomfort BUT DO NOT REDUCE RISK of having a recurrent
seizure!! – Nelson’s: Probably because the seizure usually occurs while the temp is rising or falling

• Iron deficiency shown to be assc with an increased risk of febrile seizures

---

Oxford:

Safety
• Move any danger away from the child and consider their privacy
• Place the child on a protected surface on their side
• It is good practice to note the time
Assistance
 Wayne Robinson, MBBS Class of 2015
• The family should call for help if unfamiliar with febrile seizures
• Then call ambulance
Treatment
• If the seizure lasts >10min, the child should be treated for status epilepticus
• Once the seizure has ended, the child should be assessed for the source of the fever, investigated, and treated appropriately
• Consider admission and observation, especially if this is the first episode
 Wayne Robinson, Class of 2015
Paediatrics
Fever
Source: Nelson’s

October 2014

Fever%without%a%
focus%

Fever%of%
Fever%without%
unknown%
localizing%signs%
origin%
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Gastroenteritis
Sources: Nelson’s (Chpt. 332), Toronto
September 2015

DEFINITION

• Inflammation (generally of infectious aetiology) of the stomach and intestines leading to illness characterized by
nausea, vomiting and diarrhea
o May have systemic features incl. abdominal pain and fever

INCIDENCE
• Second most common cause of child deaths worldwide!
• Viral gastroenteritis most commonly affects children aged 6 mo – 5 yr

RISK FACTORS

• Environmental contamination (water, etc.)

• Young age
• Day care attendance
• Infected household member
• Immunocompromised
• Malnutrition (also increases risk of diarrhoea associated mortality! Esp. Vitamin A and zinc deficiency)
• Measles
• Lack of exclusive/predominant breast-feeding (Breastfeeding reduces incidence)
• Antibiotic use (esp. clostridium difficile)

AETIOLOGY
[Remember to CLASSIFY: Infectious (Viral/Bacterial/Parasitic) vs. Noninfectious]

May be due to infection via the faecal-oral route OR by ingestion of contaminated food or water

• VIRAL
o Most common viral agents: Rotavirus (~50% of all GE?) – primarily fecal-oral; 2 day incubation
period
o Adenovirus, Astrovirus, Norovirus (Norwalk-like)

• BACTERIAL
o E. coli, salmonella, shigella, campylobacter, clostridium botulinum and perfringens
o Most common in developing countries: E. coli, salmonella, shigella

• Clostridium difficile linked to antibiotic-associated diarrhoea and pseudomembranous colitis –

ALTHOUGH most antibiotic-associated diarrhoea in children actually NOT due to this

• Parasitic: Giardia lamblia, entamoeba histolytica

BASIC PATHOGENESIS

Depends on whether organisms have preformed toxins, produce secretory or cytotoxic toxins or are invasive
**(See microbiology lecture for more detail if necessary – double check the timing with the microB lecture)**
• Preformed toxin: Staph aureus, Bacillus cereus
• Secretory toxin: Cholera, shigella, salmonella, E. coli
• Cytotoxic toxin: Staph, shigella, C. diff, E. coli, C. jejuni
 Wayne Robinson, MBBS Class of 2015
• Invasive

Pathogens can lead to either inflammatory or noninflammatory diarrhoea (**see notes on diarrhoea!!)
• Noninflammatory – through an enterotoxin production by some bacteria, or villus cell destruction by viruses
o **Rotavirus has a viral enterotoxin. Watery, no leucocytes.

• Inflammatory – usually caused by bacteria that invade the intestine or produce cytotoxins that enter intestinal
lumen. Bloody diarrhoea with leucocytes

Shigella spp. causes GE via superficial involvement of COLONIC mucosa

**Majority of cases of diarrhoea resolve within the 1st week of the illness

o Acute diarrhoea: Lasts < 2 weeks

o Persistent/Chronic diarrhoea: Episode that begins acutely but lasts >/= 2 weeks

CLINICAL FEATURES

• Related to the infecting pathogen and the dose/inoculum

• ALSO dependent on complications (dehydration, electrolyte imbalance)

• Preformed toxin: eg. Staph aureus -> N/V within 1-6 hrs +/- fever/abd cramps/diarrhoea in 8-72 hr
• In-vivo enterotoxin producing: eg. C perfringens and B cereus -> Watery diarrhoea + cramps in 8-16 hr
• Invasion: > 16 hrs

• Organisms that produce diarrhoea that contains blood and faecal leucocytes + abdominal pain + tenesmus + fever
o Salmonella, shigella, Campylobacter jejuni, EIEC/EHEC, Yersinia
o Features suggest bacterial dysentery (bloody and mucous diarrhoea)

• Bloody diarrhoea with abdominal cramps after 72-120 hrs IP --> Shigella, Shigatoxin producing E. coli Eg. E.
coli 0157:H7

HISTORY
• Many manifestations non-specific: [ALMOST ALL THE G.I SYMPTOMS]:
o Diarrhea, vomiting, nausea, fever, anorexia, headache, myalgias, abdominal cramps, weight loss

• Bacterial and parasitic agents more common in older children (2-4 yr). Blood and/or mucus in stool, ill
contacts, recent travel, day-care attendance, consumption of unprocessed meats, recent antibiotic use or
hospitalization

• MUST ask questions re the signs of dehydration (***Sunken eyes, decreased urination, altered LOC/lethargy,
decreased or absent tears, dry mouth, sunken fontanelle (“mole”))
• MUST ASK: URTI symptoms!! Common with rotavirus so must ask (Dr. Gabay + Nelson’s)
• Remember in history to ask if patient got a ROTAVIRUS VACCINE

Other points:
- Severe abdominal pain and tenesmus indicate involvement of the large intestine and rectum
- Fever suggests an inflammatory process but may also be due to dehydration or coinfection Eg. UTI
- Viruses rarely produce bloody diarrhoea

Recent infectious contacts: symptoms usually begin 24-48 h after exposure

EXAMINATION
• Febrile
 Wayne Robinson, MBBS Class of 2015
• Dehydrated: SEE THE FULL TABLE ON DEHYDRATION FEATURES FROM DEHYDRATION LECTURE
• URTI signs common with rotavirus

**SEE MICROB LECTURE FOR SLIDE WITH THE EXTRA-INTESTINAL MANIFESTATIONS OF SOME
INFECTIONS**

**EG. (KNOW THEM):

• Bacteraemia
• Reiter’s syndrome - (Shigella, Campylobacter). [Triad of: Arthritis + conjunctivitis/uveitis + urethritis/cervicitis]
• Haemolytic–Uraemic syndrome (HUS) - (E. coli 0157:H7, Shigella)
• Guillain–Barré syndrome - (Campylobacter)
• Reactive arthropathy - (Yersinia)
• Haemorrhagic colitis

INVESTIGATIONS
**Diagnosis is based on clinical recognition

General:
• CBC – WBCs + differential
• U&Es – Hydration and electrolyte status

Specific investigations not usually necessary in young children

Stool analysis:
• Stool microscopy: Mucus, leukocytes, erythrocytes suggests bacterial invasion or parasitic etiology;
• pH < 6 and presence of reducing substances suggests viral etiology
• C difficile toxin
• Stool culture: **Important in children with bloody diarrhoea

+/- Blood culture

TREATMENT

*3 BROAD PRINCIPLES*:
1. Correct dehydration: Oral rehydration therapy
2. Enteral feeding (orally or NG tube) and diet selection
3. Possible antibiotic therapy (NOT routinely used. Depends on various factors)

1. Assess the degree of dehydration and acidosis and provide rapid resuscitation and rehydration with oral or IV
fluids
a. Replace deficits, ongoing losses and maintenance needs (Know dehydration calculations by heart)
b. Oral rehydration therapy (ORT) preferred for mild-moderate dehydration in acute gastroenteritis. IV if
in shock or unable to tolerate oral

2. Antiemetics (eg. phenothiazines) may reduce vomiting, but increase diarrhoea. NOT recommended. Potentially
serious side-effects. BUT ondansetron is effective and less toxic antiemetic
3. Anti-diarrhoeals NOT recommended either

4. Regular diet of small frequent feeds recommended in mild illness

a. May return to age-appropriate diet once re-hydrated and vomiting stops
 Wayne Robinson, MBBS Class of 2015
5. Antibiotics or antiparasitic agents usually NOT INDICATED.
• Duration of symptoms is not altered and may increase chronic carrier status, unless there is high risk of
disseminated disease,!age < 6mths, enteric fever, cholera or E. coli 0157
• Sometimes indicated in bacterial or parasitic gastroenteritis. Antibiotics only used in select cases

6. Promote regular hand-washing and return to school 24 h after last diarrheal episode to prevent transmission

7. Additional therapies:
a. Zinc supplementation shown to reduce duration and severity of diarrhoea
b. Probiotics nonpathogenic bacteria for therapy of diarrhoea has been successful. Restores beneficial
intestinal flora

** Oxford handbook:

• Antibiotics are not indicated, as the duration of symptoms is not altered and may increase chronic carrier status, unless
there is high risk of disseminated disease, presence of artificial implants (e.g. V-P shunt), severe colitis, severe systemic
illness, age < 6mths, enteric fever, cholera or E. coli 0157. Most organisms are sensitive to ampicillin, co-trimoxazole, or
third generation cephalosporins.

Consider:
• Erythromycin if Campylobacter;
• Oral vancomycin or metronidazole if Clostridium difficile – this is a past paper question. (causes
pseudomembranous colitis).

Prevention
• Rotavirus vaccine is now available
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Child with Red Urine – Short Notes
Sources: Oxford, Nelson’s Essentials (Ch. 163), UHWI TICK SHEET (Last Page)
October 2014

Differential diagnosis of “RED URINE”

A. PATHOLOGIC:
1. Haematuria (See below)
“Heme-positive urine” without RBCs is caused by the presence of either hemoglobin or
myoglobin:
2. Haemoglobinuria (Eg. Haemolytic anaemia, Intravascular?)

3. Myoglobinuria (Eg. Rhabdomyolysis - secondary to viral myositis,

crush injury, severe electrolyte abnormalities (hypernatremia,
hypophosphatemia), hypotension, DIC, toxins)

B. NON-PATHOLOGIC:
1. Foods – colouring (e.g. beetroot, food coloring)
2. Drugs (e.g. rifampicin,!chloroquine, deferoxamine, Ibuprofen,
Metronidazole, Nitrofurantoin, Phenothiazines, Salicylates,
Sulfasalazine)

3. Urate crystals (in young infants, usually ‘pink’ nappies)

4. External source (e.g. menstrual blood losses)
5. Fictitious – consider if no cause found.

RE: HAEMATURIA
! May be gross/macroscopic OR microscopic
! Microscopy: Nelson says > 3-5 RBCs per high-power field/microlitre is abnormal. Oxford says > 10 abnormal.
Benign in ~4% of healthy children.
! Dipstick: Very sensitive and can be positive at < 5 RBCs per high-power field
! Microscopic analysis of 10-15 mL of freshly centrifuged urine is essential in confirming the presence of RBCs suggested by a
positive dipstick.
! Most common cause of gross hematuria is bacterial urinary tract infection

Causes: CLASSIFY: Upper urinary tract (kidney) vs. lower urinary tract vs. systemic

A. UPPER URINARY TRACT (Nephron (glomerulus, convoluted or collecting tubules, and interstitium))

a. Glomerular
• **Note: Hematuria from within the glomerulus is often associated with brown, cola or tea-colored, or burgundy urine,
proteinuria, urinary microscopic findings of RBC casts, and deformed urinary RBCs (particularly acanthocytes)

i. Immunologic: Glomerulonephritis –
- eg. **Post-streptococcal GN – Most common ACUTE GN [Read up this topic!]
- IGA nephropathy – Most common CHRONIC GN
- Membranoproliferative GN
- Systemic diseases eg. SLE – lupus nephritis
ii. Structural disorders (**Alport syndrome (also assc with deafness), ‘Thin basement membrane
disease – (aka. Benign Familial Haematuria)’)
iii. Toxin-mediated – **HUS
 Wayne Robinson, MBBS Class of 2015
b. Tubulointerstitial/Parenchymal
i. Inflammation (Pyelonephritis)
ii. Vascular (Sickle cell trait/disease, renal vein thrombosis, arteritis, Nutcracker syndrome?)
iii. PKD and cyst rupture
iv. Tumour: Wilm’s tumour
v. Trauma

B. LOWER URINARY TRACT (Pelvocalycealsystem, ureter, bladder, or urethra)

• ** Note: may be associated with gross hematuria that is bright red or pink, terminal hematuria (gross hematuria
occurring at the end of the urine stream), blood clots, minimal proteinuria, normal urinary RBC morphology)

a. Inflammation – most common lower UT cause - (UTI incl. schistosomiasis and TB, haemorrhagic
cystitis)
b. Trauma
c. Urolithiasis/Kidney stones
d. Hypercalciuria

C. SYSTEMIC/GENERAL
a. Coagulopathy or platelet deficiency/disorders
b. Drugs - Cyclophosphamide
c. Exercise-induced

----
Wayne Robinson, MBBS Class of 2015
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Infective Endocarditis Notes
Source: Nelson’s, Toronto Notes
September 2014

DEFINITIONS
(Just think about the name and it literally gives the definition)

• IE: Infection of the cardiac endothelium (endocarditis), most commonly the valves

• Leaflet “vegetation”: Thrombus + Bacteria + WBCs

Classifications:
• Acute vs. Subacute endocarditis
• Bacterial vs. Nonbacterial endocarditis (viruses, fungi, other)
• Native valve vs. Prosthetic valve
• Right-sided vs. Left-sided

Significant cause of morbidity and mortality in children despite advances in antimicrobial management

INCIDENCE
[Some of the aetiology/pathophysiology is here!]

Endocarditis is RARE IN INFANCY

***IMPORTANT: IE is often a complication of congenital or rheumatic heart disease***

BUT can also occur in children without any abnormal valves or cardiac malformations

Know this: Explanation of pathophysiology

1. Patients with congenital heart disease where there is TURBULENT BLOOD FLOW due to a hole or stenosis,
especially if there is a high-pressure gradient across the defect, are more susceptible to IE.

2. The turbulent blood flow traumatizes the vascular endothelium, which creates a substrate for DEPOSITION OF
FIBRIN AND PLATELETS leading to the formation of “nonbacterial thrombotic embolus” (NBTE) –
NBTE is initiating lesion for IE

Also BIOFILMS on mechanical devices such as valves, catheters or pacemaker wires may also act as a nidus for
infection

3. The development of TRANSIENT BACTEREMIA then colonizes the NBTE or biofilm & leads to proliferation of
bacteria within the lesion

*RE: Source of the bacteraemia: Mucosal surfaces (oropharynx, GI, vaginal or urinary tracts) heavily colonized with
potentially pathogenic bacteria. These surfaces are thought to be the origin of the TRANSIENT BACTEREMIA. Extent is
controversial.

[Interesting: Transient bacteremia reported in 20-68% of patients after tooth brushing and even in 7-51% after chewing
food!!]
Maintenance of good oral hygiene may be important in decreasing frequency of bacteraemia

RISK FACTORS
• High risk: Prosthetic cardiac valve, previous IE, congenital heart disease (unrepaired, repaired within 6 mo, repaired
 Wayne Robinson, MBBS Class of 2015
with defects), cardiac transplant with valve disease (surgically constructed systemic-to-pulmonary shunts or conduits)

• Moderate risk: Other congenital cardiac defects, acquired valvular dysfunction, hypertrophic cardiomyopathy

• *Low/no risk: Secundum ASD or surgically repaired ASD (remember flow through an ASD is NOT high pressure) < VSD,
PDA, MV prolapse, IHD, previous CABG

• Opportunity for bacteremia: Intravenous drug users

In 30% of patients with IE, a predisposing factor is recognized

Preceding dental procedure is controversial as a risk factor

Primary bacteremia with staph aureus is thought to be another risk factor

AETIOLOGY

***Frequency of valve involvement: MV far > AV > TV > PV***

BUT in 50% of IVDU-related IE the tricuspid valve is involved

Streptococcus viridans (alpha haemolytic strep) and Staph. Aureus are the leading causative agents in
paediatric patients. [Note: NOT group A beta-haemolytic strep, which causes rheumatic fever]

Note well: Staphylococcal endocarditis is the most common in patients with no underlying heart disease!

~6% of cases = Culture negative for any organisms (May be due to the HACEK organisms in these cases)

Pseudomonas aeruginosa and serrate marcescens seen more frequently in IV drug users

Toronto Notes Table

CLINICAL FEATURES

1. Fever in 80-90%
• Prolonged fever without other manifestations may be the only symptom
• OR there may be fever of acute onset, severe and intermittent with prostration
 Wayne Robinson, MBBS Class of 2015
2. Other symptoms often nonspecific: Low-grade fever, chills, night sweats, fatigue/malaise, myalgia, arthralgia,
weight loss, headache, chills, N, V

3. NEW OR CHANGING HEART MURMURS are common

• Associated **heart failure: Symptoms: Dyspnoea, orthopnoea, PND. Signs: Resp. distress, creps,
hepatomegaly, ascites, distended neck veins, peripheral oedema

4. Splenomegaly and petechiae relatively common

5. ***Serious neurological complications (Embolic strokes, cerebral abscesses, mycotic aneurysms, haemorrhage) –
most often associated with staphylococcal disease
• Signs: Meningismus, increased ICP, altered sensorium, seizures, focal neurological signs

Myocardial abscesses in staph disease ! May damage conducting system (heart block) or may rupture into pericardium
(purulent pericarditis)
• Signs: Arrhythmias

Note: Pulmonary and other systemic emboli are uncommon except with fungal disease

Many of the classic skin findings develop LATE:

1. Osler’s nodes – TENDER, small intradermal nodules in pads of fingers and toes
2. Janeway lesions – PAINLESS, erythematous or haemorrhagic lesions on palms and soles
3. Splinter haemorrhages – linear lesions beneath the nails
These lesions above may represent vasculitis produced by circulating immune complexes

HISTORY SYMPTOMS EXAMINATION

- Prior congenital or rheumatic heart Nonspecific/constitutional: - Elevated temperature

disease - Tachycardia
- Preceding dental, urinary tract, or - Fever
intestinal procedure - Chills - Embolic phenomena (Roth spots, petechiae, splinter
- Intravenous drug use - Malaise, weakness haemorrhages, Osler nodes, CNS – focal
- Central venous catheter - Night sweats neurological signs, ocular lesions)
- Prosthetic heart valve - Weight loss - Janeway lesions
- Arthralgia, myalgia - New or changing murmur
- Splenomegaly
- Chest and abdominal pain - Arthritis
- Signs of heart failure
Heart failure: - Arrhythmias
- Dyspnoea, orthopnoea, PND - Metastatic infection (arthritis, meningitis, mycotic
arterial aneurysm, pericarditis, abscesses, septic
CNS manifestations: pulmonary emboli)
(Stroke, seizures, headache) - Clubbing

INVESTIGATIONS

THE CRITICAL INFORMATION FOR THE APPROPRIATE TREATMENT OF IE COMES FROM BLOOD
CULTURES. ALL OTHER LAB DATA ARE SECONDARY IN IMPORTANCE

Cultures
• 3 sets (each containing one aerobic and one anaerobic sample) collected from different sites > 1 h apart
• Persistent bacteremia is the hallmark of endovascular infection (such as IE)
• Repeat blood cultures (at least 2 sets) after 48 to 72 h of appropriate antibiotics to confirm clearance
 Wayne Robinson, MBBS Class of 2015
• Timing of collections is NOT important because bacteremia is relatively constant

Other specimens for culture: Urine, synovial fluid, abscesses and if features of meningitis, CSF

Bloodwork
1. CBC and differential (normochromic, normocytic anaemia)
2. U&E
3. ESR (increased)
4. RF (+)

Urine
1. Urinalysis (proteinuria, haematuria, red cell casts)
2. Urine C&S

ECG - Prolonged PR interval may indicate perivalvular abscess

Imaging
• ECHO findings (TTE AND TEE) - **Lesions > 1 cm = greatest risk for embolization, vegetations, regurgitation,
abscess
o TTE (poor sensitivity) inadequate in 20% (obesity, COPD, chest wall deformities)
o TEE indicated if TTE is non-diagnostic

DIAGNOSIS

• Duke criteria help in diagnosis

Modified Duke Criteria [2 major and 5 minor]

[Established 1994. Modified in 2000]
(Pay attention to the details of the table)

• Definitive diagnosis if: 2 (all) major, or 1 major + 3 minor, or 5 (all) minor

• Possible diagnosis if: 1 major + 1 minor, or 3 minor
!
 Wayne Robinson, MBBS Class of 2015
Other minor criteria (Nelson’s): New clubbing, splenomegaly, splinter haemorrhages, petechiae, high ESR or CRP,
microscopic haematuria

MANAGEMENT
Medical
• Usually non-urgent and can wait for confirmation of aetiology before initiating treatment

• Empiric antibiotic therapy (i.e. before the agent is cultured) may be indicated if patient is unstable
o First-line: vancomycin + gentamicin or ceftriaxone
o High bactericidal levels must be maintained to eradicate the organisms that are growing in relatively
inaccessible, avascular vegetations!!! Several weeks are required for a vegetation to organize completely
so therapy must be continued throughout this period

• Targeted antibiotic therapy: antibiotic and duration (usually 4-6 wks) adjusted based on valve, organism
and sensitivities

• Monitor for complications of IE (e.g. CHF, conduction block, new emboli) and complications for antibiotics (e.g.
interstitial nephritis)

Streptococcus viridans: Aqueous penicillin G, ceftriaxone, + gentamicin/vancomycin

Staph aureus in the absence of prosthetic valves: Nafcillin/oxacillin + gentamicin/cefazolin. Vancomycin if oxacillin
resistant

Surgical intervention
• Indicated for severe aortic or mitral valve involvement with intractable heart failure

• Other indications, include valve ring abscess, fungal etiology, valve perforation, unstable prosthesis, ≥2 major
emboli, antimicrobial failure (persistently positive blood cultures), mycotic aneurysm, Staphylococci on a
prosthetic valve

FUNGAL IE: More difficult to treat

• Drugs of choice: Amphotericin B and 5-fluorocytosine. Surgery may be indicated

PROGNOSIS

Adverse prognostic factors: CHF, prosthetic valve infection, valvular/myocardial abscess

Mortality: prosthetic valve IE (25-50%), non-IVDU S. aureus IE (30-45%), IVDU S. aureus or streptococcal IE (10-15%)
 Wayne Robinson, Class of 2015
Paediatrics
Kawasaki Disease
Source: Kaplan Paeds 2013
September 2014

Severe acute vasculitis of ALL blood vessels but mostly affecting medium-sized arteries, **especially coronary;
worldwide (higher in Asians)
• Now the leading cause of acquired heart disease in US/UK/Japan
• **(without treatment, 20% develop coronary artery abnormalities)
• 80% are under 5 years old; occasionally teenagers and younger adults

**Diagnostic criteria**:
− Fever for ≥ 5 days not improved with ibuprofen or acetaminophen, plus 4 of the following 5 criteria:
1. Conjunctivitis (bilateral, without exudate (may have early anterior uveitis))
2. Changes of lips and oral cavity: Intraoral erythema, strawberry tongue, dry and cracked lips
3. Changes of extremities: Erythema and swelling of hands and feet; desquamation of fingertips 1–3 weeks after
onset; may involve entire hand or foot
4. Various forms of rash (but not vesicular); diapered children may have perineal desquamation
5. Cervical lymphadenitis (Nonsuppurative)

Other findings:
• Extreme irritability
• CNS: Aseptic meningitis
• GI: Diarrhoea + Vomiting
• GI: Hepatitis
• GI: Hydrops of the gallbladder
• GU: Urethritis with sterile pyuria
• Otitis media
• M/S: Arthritis
• ***Cardiac findings:
o Early myocarditis (50%) with tachycardia and decreased ventricular function
o Pericarditis
o Coronary artery aneurysms in the second to third week

Lab abnormalities

1. CBC:
a. WBC - normal to increased; neutrophils and bands. T cell lymphopaenia
b. Hb - Normocytic anemia of chronic disease
c. Plts - Platelets high/normal in week 1, then significant increase in weeks 2–3 (often more than a
million)
2. Acute Phase Reactants: Increased ESR +/- CRP (non-specific markers of inflammation)
3. Urine: Sterile pyuria
4. LFTs: Increased hepatic transaminases
5. CSF: Cerebrospinal fluid (CSF) pleocytosis
6. ***Most important test is 2D echocardiogram; repeat at 2–3 weeks and, if normal, at 6–8 weeks. Also get
ECG, follow platelets.

Management:

• Acute - Intravenous immunoglobulin (IVIg) = treatment of choice

• High-dose aspirin
• Low-dose aspirin (3–5 mg/kg/day) at start of subacute phase (afebrile)
• Influenza vaccines if in winter (Reye syndrome)
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Malnutrition
Sources: Lecture [MUST still use lecture]
September 2014
BLUE = Comments from Prof. Thame in the actual class
*Prof. Thame recommends Oxford Textbook of Medicine 2nd Ed, Ed Weatherall et al, pp 8.12-8.21, 1986. Says you don't need to
go anywhere else. I didn’t use it.

Primary malnutrition:
Secondary malnutrition:

Classification of Malnutrition:
1. Gomez (weight for age only)
2. Wellcome (weight for age AND oedema)
3. Waterlow (weight for height AND height for age)
4. WHO

GOMEZ CLASSIFICATION
• Uses weight-for-age only. Expressed as a percentage
• Used in public health screening
• Used to evaluate the impact of public health interventions
• ***Limited clinical use. Reasons:
o *By using wt. for age, it fails to differentiate between longstanding growth failure and acute weight loss
o *Doesn’t take into consideration oedema - so oedematous children may be misclassified into less severe
grades (Oedema causes a higher weight even though the child may be very malnourished)

Wt. for age (%) Degree

90-110 Normal Normal

75-89 Grade I Mild
60-74 Grade II Moderate
<60 Grade III Severe
(Increments of 15%)
WELLCOME CLASSIFICATION

2 criteria: Weight for age AND Oedema

***Limitations:
• Restriction of the definition of kwashiorkor to patients with nutritional oedema only
• “Marasmic” children includes both stunted and wasted children
• (Like Gomez – by using weight for age only – fails to differentiate between longstanding growth failure and acute
weight loss)

Wt. for age (%) Oedema absent Oedema present

>80 Normal Oedematous Malnutrition

60-80 Undernutrition Kwashiorkor
<60 Marasmus Marasmic-kwashiorkor

• Know the term “oedematous malnutrition”: Look up

• Currently speak of “Severe Acute Malnutrition” at WHO (SAM)
o Intended to replace terms like kwashiorkor but even recent papers published still use the old terms
• Kwashiorkor: Means “moved away from the breast”.
• Look up a bit about kwashiorkor: Protein deficiency. Aflatoxin?
 Wayne Robinson, MBBS Class of 2015
WATERLOW CLASSIFICATION

- Height-for-age is for stunting. Worried about < 85% (severe)

- Weight-for-height is for wasting. Worried about < 70% (severe)
- John Waterlow was the first director of TMRU. He created it.

Waterlow classification divides underweight for age children into 2 groups:

1. Stunted but normal proportion
2. Normal height but thin and wasted

[Simple way to remember: 1. Stunted (abnormal low height) but not wasted. 2. Wasted but not stunted (normal height)]

1. Stunted (short for age) but normally proportioned causes:

1. *Familial short stature
2. *Premature birth - “Premies”
3. Nutritional dwarfism: Reflects a MILD INSULT over a LONG PERIOD resulting in slowing or cessation of
growth (but the patient not wasted because the insult is mild)
• High energy feeding NOT appropriate: If you try to manage with dietary therapy for severe malnutrition (high
energy feeding), the patient will just become obese. *The body has basically adapted to the chronic malnutrition and trying to
correct it as if it is acute will just make the patient obese.

2. Normal height but thin and wasted:

• Caused by acute episode of malnutrition – will stop growing in height acutely and also lose weight
• Will become underweight for age more rapidly
• Not normally proportioned (thin and wasted)
• **High energy feeding IS appropriate

- Stunting = Height-for-age. Height of a child relative to the height of a normal child of the same age
- Wasting = Weight-for-height (NOT weight-for-age). *Weight for height = Weight of the child relative to what would be
normal weight for his height. Need to assess if the child’s weight is normal for the height that he is at. Not for his age. If weight-for-age
were used, that would not take into account the possibility of being very short (stunting) or being very tall affecting weight, and thus could
not determine wasting. Ie. A very short person having a low weight for his age would not be wasting, it would be expected. Need to
compare the weight with his height to be sure.

Wt. for Ht. deficit (%) Ht. for age deficit (%)
Normal 90-120 95-110
Mild 80-89 90-94
Moderate 70-79 85-89
Severe < 70 < 85

• Wasted child – Presents an immediate clinical problem where rehabilitation can lead to restoration of the lost
tissue

• Stunted child – Likely to depend upon public health measures aimed at environmental improvement

WHO Classification

Criteria Moderate Severe

Oedema No Yes
Wt/Ht -3 <SD Score <-2 < -3 SD Score
(70-79%) (<70%)
Ht/age -3 <SD Score <-2 < -3 SD Score
(85-89%) (<85%)
 Wayne Robinson, MBBS Class of 2015
RESEARCH STUDIES – TMRU

• Glutathione (GSH) concentration and synthesis found to be significantly decreased in children with
oedematous malnutrition
o GSH deficiency important in pathophysiology of oedematous malnutrition

**CRITERIA FOR ADMISSION**

1. < 80% wt-for-ht WITH < 60% wt-for-age

2. < 70% wt-for-ht ALONE
3. Have nutritional oedema (***but she said ANY OEDEMA AT ALL IN CLASS)
4. A child who does not precisely meet these criteria (ie. Undernutrition by the Wellcome Classification) BUT who
is obviously clinically sick, or, who will obviously get worse quickly if sent home
5. Anorexia > a few days
6. Failure of immediate outpatient management

..
Management of malnutrition basically is the same for the 3 types:
1. Inadequate intake
2. Decreased absorption
3. Increased metabolism

HISTORY TAKING – MUST SEE THE POWERPOINT FOR THE FULL HISTORY (from slide 39)

In history - Work the symptoms!!! = Eg. If vomiting --> Ask every single thing about vomiting etc.

The typical child with severe malnutrition was usually just malnourished and just at the brink, and it is an additional insult
(usually an infection) that pushes them over. So MUST ask infection questions on history incl. RTI

Malnutrition history is very long!!!

• Very much detail required in basically every aspect of history, including in the dietary history. Family history
must ask about caregiver’s/parents’ age, education level, occupation, average weekly income, details of housing,
siblings. Remember perinatal history, esp. birth weight.
• Get the detailed history of breastfeeding (how often/day, for how long) and formula feeding (which, dilution, how
she prepares AND how much is actually eaten by the baby!!) as well as detailed history of other feeding.
Specifically ask.

Need to delve into the history of how they feed. Example, do they dilute the formula inappropriately just to stretch it.

EXAMINATION (IMPORTANT – POSSIBLE OSCE EXAMINATION STATION)

MARASMUS KWASHIORKOR MARASMIC-KWASHIORKOR

Apathetic Apathetic & irritable Combines clinical characteristics of kwashiorkor

*Generalized muscular wasting *Pitting, painless oedema and marasmus
*Absence of subcutaneous fat *Dermatitis
‘Skin and bones’ appearance Hair changes *Muscle wasting & *decreased SC fat (marasmus)
Hair – sparse, thin, dry, loss of sheen ± abdominal distension
‘Old person’s face’ – sunken cheeks due *Hepatomegaly *Oedema ± *skin lesions (kwashiorkor)
to disappearance of fat pads
± abdominal distension
Skin – dry, thin, wrinkles easily

*Full anthropometry: Weight, height, head circumference, % wt/age, % wt/ht, % ht/age! Plot it all on a growth chart!!
 Wayne Robinson, MBBS Class of 2015
INSPECTION
(TRY TO THINK GENERAL APPEARANCE FROM THE HEAD TO TOE!!)

Assess GENERAL mood and behavior: *Look at entire body* - Important features are on front AND back,
head to toe. Good to make a running commentary of EVERYTHING you’re looking for in exam so the examiner
knows what you’re doing

• Altered affect, apathetic, irritable

• Stereotyped self-stimulating behavior - body rocking, rumination
• Cry – monotonous, loud groan

• Wasting: *Severity. Evidence of wasting: *Prominent ribs & limb joints. *Redundant skin folds - axillary,
gluteal. **Winging of scapula.

o ***Other sites for wasting (from top to bottom):

! Temporalis
! Shoulder girdle, axillary folds, inter and infra-scapular wasting (back), and wasting of deltoids
! Prominent ribs and other joints
! Winging of scapula (back)
! Then pelvic girdle
! Buttocks
! Thighs: Wasting of quadriceps and guttering

• Pitting oedema (This is palpation, not inspection): severity – NOT JUST FEET!!: feet, legs, thighs, sacrum,
hands, periorbital. *Dependent and periorbital oedema. *In severe cases, entire body and internal organs may be
oedematous (anasarca)

SKIN

***Sequential changes (1 -> 2 -> 3):

1. First becomes darker esp. over pressure areas & places exposed to minor trauma
2. Drying & cracking of superficial skin revealing pale areas between the cracks (crazy pavement dermatosis)
3. Dry cracked layer then peels off leaving thin hypopigmented skin (flaky paint dermatosis)

• Xerosis (Dry skin)

• Skin friable
• Ulceration/maceration – perineum, flexures, behind ears
• Petechiae
• Follicular hyperkeratosis??
• Face – depigmentation/hyperpigmentation, scaling of skin around nostrils

HAIR (*Not just head hair. Also actual scalp, eyebrows, eyelashes, nails)

• Scalp hair – Describe: dull, dry, thin, fine, sparse, bald

o Atrophy of hair roots – easily pluckable
o *Hair loss – may see hair in bed
o *Forest sign – Straightening of hair at the bottom and curling on the top giving an impression of a forest
o *Flag sign – Alternating bands of discoloration of hair (reddish, blond, or gray, depending on original color) resulting from
fluctuations in nutrition/intermittent malnutrition characteristic of kwashiorkor and in diseases with protein depletion such
as ulcerative colitis.
• Eyebrows – lost, colour change
• Eyelashes – long & luxuriant, colour change
• Excess growth of lanugo hair
• Nails – rate of growth impaired ± colour change
 Wayne Robinson, MBBS Class of 2015
EYES

• Conjunctival Pallor – Anaemia from malnutrition

• Angular palpebritis
• Corneal & conjunctival xerosis (Dry eyes) – Vitamin A deficiency
• Bitot’s spots – Vitamin A deficiency
• Jaundice – Liver impairment

CHEEKS

• Jowls – fullness of cheeks associated with oedematous malnutrition – ALSO may be seen in marasmus
o Cause of jowls unknown
• OR Sunken cheeks due to disappearance of fat pads - marasmus
MOUTH

• Angular stomatitis, angular cheilitis (Cheilitis = inflammation of lips)

• Oral candidiasis – Candida opportunistic in malnourished, also may have HIV
• Tongue – hyperaemic, swollen, smooth, sores
• Teeth – missing or erupting abnormally, cavities
• Gums – bleeds easily, recession of gums

Gynaecomastia – Liver impairment. Associated finding is gross hepatomegaly.

ABDOMEN

• Distended – usually gaseous distension secondary to bacterial overgrowth

• Peristalsis may be seen if abdominal wall is sufficiently thin
• Hepatomegaly – smooth, firm, non-tender due to triglyceride accumulation
• Petechiae & hyperbilirubinemia (liver dysfunction) – poor prognostic sign

BONE

• Enlargement of costochondral junction – Rachitic/rickety rosary (Vit D, Vit C, copper, phosphate

deficiency)
• Craniotabes?
• Frontal & parietal bossing
• Persistently open anterior fontanelle
• Knock-knees, bow-legs
• X-ray – marked osteopaenia

NEUROLOGIC

• Variety of abnormal neurologic signs – Don’t forget to test: **Hyper/hypotonia, **Hypo/hyper-reflexia,

abnormal movements (uncommon – may be caused by specific limiting nutrient deficiencies or underlying
disease process
• NB: Peripheral nervous system usually well preserved
• ‘Kwashi shakes’- Parkinsonian-like. In recovery phase (transient)

NOTE: “Apparent iron deficiency anaemia”

• Inability to utilize Fe rather than dietary unavailability
• Storage Fe may be increased, circulating - ferritin high/normal
• Levels of Fe binding protein reduced
• Free transferrin exerts bacteriostatic effects which are lost when the molecule is bound with Fe
 Wayne Robinson, MBBS Class of 2015

Investigations (**Explanations below)

1. CBC, diff, film, Hb electrophoresis
2. Urea & electrolytes, LFTs, cholesterol, TG
3. Mg, Ca, Phos
4. VDRL, HIV
5. Blood culture, urine culture
6. CXR
7. Stool – oc&p, culture
8. Lumbar puncture / skin swab if indicated
9. Other tests as indicated

---

Clinical manifestations
• ***Hypothermic infant is more ill than a hyperthermic. Means they cannot mount an appropriate response
• Jaundice = Very bad sign. Suggests liver failure --> Only 1% of cases with liver failure no matter what u do will
survive??

Vitamin A deficiency manifestations

• Early signs:
• “Bitot spot”
• Wiki: Bitot's spots are the buildup of keratin debris located superficially in the conjunctiva, which are oval, triangular or
irregular in shape. These spots are a sign of vitamin A deficiency and are associated with conjunctival xerosis

Vitamin A deficiency is a medical emergency!!

• Can cause blindness if not promptly managed

---

• Child with severe anaemia from malnutrition e.g. Hb of 4 --> DO NOT want to replace rapidly. May cause many
problems
• Feed slowly.
• Replace their haemoglobin slowly etc. It did not get there overnight so do not try to replace it overnight

---
• Jowls --> Fat pads on the cheek in malnutrition --> Cause is unknown
• Oxford online dictionary Jowl: the lower part of a person's or animal's cheek, especially when it is fleshy or drooping
---

• Mouth -> See lecture

• Also angular chelosis

• **Smooth, pale tongue " IDA

• **Large, beefy red " B12 deficiency

---

2 very classical signs in malnutrition:

1. Crazy-pavement dermatosis
2. Flaky-paint dermatosis

---
 Wayne Robinson, MBBS Class of 2015
Satellite lesions from candida (Classic lesion)
Usually if you get candida in the mouth, check the groin and vice versa.

---

Distended abdomen is usually due to a hepatomegaly!! This is why on examination, MUST start from iliac fossa
in palpation

***Primary malnutrition does NOT present with splenomegaly. Look for other pathology!

---

Rachitic/rickety rosary: Comes down side of sternum

---

Gynaecomastia due to liver impairment

Neurological signs may vary. Hypo or hypertonic etc.

Kwashi shakes: See it in the recovery phase then gets worse and then disappears. Rare. She has only seem it once

---

Investigations: Many to do

1. CBC: Invariably anaemic. May be macro or microcytic

2. U&Es: Esp. if vomiting or diarrhea. Electrolyte disturbances. Elevated urea and creatinine

3. Albumin and globulins in impaired liver function

Must investigate to detect/exclude infections!!:

4. X rays: May have a pneumonia going on but they cannot manifest the clinical features

5. Then cultures: Stool, urine etc.

6. Used to do routine LP routinely. NOT ROUTINE ANYMORE

7. Also VDRL and HIV for ALL patients.

a. Both may present like that

Treatment divided
See the lecture for the order
1. Resuscitation (1-2 weeks)
2. Maintenance (included in the above)
3. Rapid catch-up/Rehabilitation (4-6 weeks)
4. Prepare for discharge (1-2 weeks)
5. Follow-up
…

RESUSCITATION:

Aim:
 Wayne Robinson, MBBS Class of 2015
Resuscitate patient – treat infections **(ALWAYS assume they have infection on board), restore electrolyte balance:
• **Broad spectrum antibiotics - 10 days
• First line treatment – Amoxil, gentamicin, Flagyl
• If fail to improve within 48 hrs / deteriorates - switch to second line therapy – cephalosporin & amikacin
Other infections:
• *Staphylococcus skin infection – Cloxacillin
• *Oral candidiasis – Nystatin suspension
• *Groin candidiasis – Antifungal cream

Treat or prevent dehydration (± vomiting & diarrhea)

Dietary management:
*Give enough to prevent hypoglycemia and hypothermia, to prevent further tissue catabolism and allow for
reversal of physiological changes without overloading the limited capacity of the heart, kidney, intestine or liver
• Oral route preferred
• IV fluids only if there are definite signs of shock
• Diet solution used: **ReSoMal solution (less sodium and more potassium than WHO soln. = better)

• Hypoglycemia can precipitate seizures

• Don't rush to correct hypernatraemia!! They didn't get there overnight

MAINTENANCE
• Recovery syndrome may be iatrogenic in maintenance and can kill child.
• Start to feed the child to: Reverse physiological changes, prevent further tissue catabolism
• No commercial formula to give what we want. TMRU prepares own milk feeds
• Energy 80-100 kcal/kg/d. Protein: 0.7 – 1.2 g/kg/day

• So must only give minimal feeding during the maintenance phase!!!

• That is, give exactly what is needed and no more!!

• May worsen oedema if too much

• See the slide for the values

• Give the feeds in divided doses

o Small volumes
o Eg. **Give every 3 hrs. Or even every 2 with even smaller volumes

• See everything given on slide

• Note that you give them **NO IRON in early phases!!!

o The iron if given may be feeding the microorganisms AND also may be toxic

• Also always assume they have infection on board. Broad spectrum + metronidazole!!!

• Maintenance usually 10-14 days

• Oral foods preferred

• Try best not to give fluid IV may worsen edema. Only if cannot tolerate oral

• Weigh every day

• See the mineral mix on slide

 Wayne Robinson, MBBS Class of 2015

End of resuscitative phase:

• Treatment of infection
• Loss of oedema
• Return of appetite
• Return of affect

REHABILITATION
• Usually takes about 6-8 weeks

• Gradual increase in volume of feeds

• This leads to increase in caloric intake and weight gain
• Stomach capacity approx. 30% of body weight
• The energy density of the feed is increased by adding a concentrated source of calories to the diet
• Oil is particularly effective as it has over twice the energy density of CHO
• Protein:energy ratio at least 7 (<7 – more fat than lean tissue deposited)

RAPID CATCH-UP
• FeSO4 added
• Progress assessed by daily weights plotted on a graph (gain 5-20 g/kg/day)
• Encouraged to complete feeds
• Takes between 150-220 kcal /kg/day

• Feeds increased daily at TMRU until child fails to complete feeds

• Can be allowed out of crib for playtime – risk of cross infection is less, minimize delay in mental development
• End of RCUP marked by plateau –usually between 90-110% of expected weight for height
• DO NOT DISCHARGE BELOW 90%

PREPARE FOR DISCHARGE

FOLLOW-UP
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Meningitis
Sources: Nelson’s Essentials, Toronto Notes, Path and Microb. notes
September 2014

DEFINITION

• Inflammation of the leptomeninges (arachnoid and pia mater) surrounding the brain and spinal cord

Aseptic meningitis: Meningitis with negative bacterial cultures. Principally refers to viral meningitis BUT there are
many other causes of meningitis with negative CSF bacterial cultures:
a. Other non-bacterial organisms: Lyme disease (Borrelia burgdorferi), syphilis, TB, cat-scratch disease
(Bartonella henselae)
b. Parameningeal infections: Brain abscess, epidural abscess
c. Chemicals: NSAIDs, IVIG, Betadine
d. Autoimmune disorders

Partially treated meningitis: Bacterial meningitis complicated by antibiotic treatment before lumbar puncture
resulting in negative CSF cultures although other CSF findings of bacterial meningitis persist.
• *Can sometimes be confirmed with PCR of the CSF

EPIDEMIOLOGY

• Peak age: 6-12 months

• 90% of cases occur in children < 5 yr old

AETIOLOGY
[CLASSIFY: Infectious (Viral, bacterial, fungal, parasitic) vs. Non-infectious (Chemical, autoimmune)]

• Viral: Most common overall

o Most common viruses are enteroviruses (ECHOVIRUS most common) and parechoviruses. Also herpes
simplex virus (HSV), EBV, CMV, HIV, mumps.
• Bacterial: Age-related variation in specific pathogens (see Table below)
• Fungal (cryptococcal, candida) and parasitic (toxoplasma) meningitis also possible

• **Most often due to **haematogenous spread**!!!!!!

o or direct extension from a contiguous site (eg. ear infection, skull fracture)

MUST KNOW THIS TABLE FOR BACTERIAL MENINGITIS

NEONATE (*UP TO 28 DAYS – see below) > 3 months old – Pre-school OLDER CHILD+ADULT

Common 1. Gram negative bacilli – 50% 1. H. influenzae – 50% 1. S. pneumoniae – 30%

- (E. coli, klebsiella, proteus)
2. N. meningitides – 25% 2. N. meningitides – 15%
2. Group B strep (GBS) – 20%
3. S. pneumoniae

Uncommon Listeria (usu. immunosuppressed) M. tuberculosis Staph, M. TB, Listeria, H flu

***NOTE WELL: For age group for meningitis

• Have an “overlap group”
o Neonate organisms occur up to 28 days
o Age > 3 months for the other organisms
o But between this period is the “overlap group”
o (Usually don't mention pneumococcus in the overlap group)
 Wayne Robinson, MBBS Class of 2015

RISK FACTORS

• Unvaccinated
• Immunocompromised: Asplenia, diabetes mellitus, HIV, prematurity
• Haemoglobinopathies: Sickle cell

• Recent or current infections: AOM, sinusitis, orbital cellulitis,

• Neuroanatomical: congenital defects, dermal sinus, neurosurgery, cochlear implants, recent head trauma (basal
skull fracture)
• Exposures: day care centres, household contact, recent travel

CLINICAL FEATURES

NOTE: Signs and symptoms variable and dependent on age, duration of illness and host response to infection

General points:
• Preceding upper respiratory tract symptoms are common

• Fever is usually present

• Indications of meningeal inflammation: Headache, nuchal rigidity, photophobia, lethargy, irritability,

nausea, vomiting

• Triad of meningism:
1. Neck stiffness
2. Kernig’s sign – With the hip joint flexed, knee extension causes hamstring spasm
3. Brudzinski’s sign – Passive neck flexion causes flexion of the thighs and knees

• Kernig and Brudzinski signs usually present in children older than 12 months
o Question: Can you assess Kernig’s and Brudzinski’s sign in less than 2 years old?
o Answer: YES. BUT absence of these signs does not exclude meningitis in this age group

• Focal neurologic signs: Seizures, arthralgia, myalgia, petechial/purpura, sepsis, shock, coma

• Symptoms of increased ICP: Headache, diplopia, vomiting, bulging anterior fontanelle (bulging “mole”)

• Signs of increased ICP with brain herniation: Ptosis, 6th nerve palsy, anisocoria, bradycardia with
hypertension, apnoea

HISTORY

• Infants: Fever, lethargy, irritability, poor feeding, vomiting, diarrhea, respiratory distress, seizures

• Children: Fever, headache, photophobia, N/V, confusion, back/neck pain/stiffness, lethargy, irritability

NB: MENINGOCOCCAL MENINGITIS ASSOCIATED WITH RASH IN 70% OF CASES

EXAMINATION

• Infants: Toxic appearance, hypothermia, bulging anterior fontanelle (due to increased ICP), respiratory
distress, apnea, petechial/purpuric rash, jaundice, omphalitis

• Children: Toxic, decreased LOC, nuchal rigidity, Kernig’s and Bruzinski’s signs, focal neurologic findings,
 Wayne Robinson, MBBS Class of 2015
petechial/purpuric rash

INVESTIGATIONS

A. Blood work
• CBC – Increased WBC common
• Sepsis screen: Urine, blood, sputum culture/sensitivity. CSF examination
• Blood cultures positive in 90% of bacterial meningitis

B. Lumbar puncture mandatory for definitive diagnosis:

• (***Do not perform if evidence of cardiovascular instability or increased ICP other than a bulging fontanelle –
because of risk of herniation)
• Ensure no antibiotics given prior to LP

***CSF assessment:
1. Don’t forget: Macroscopic inspection: CSF cloudy in bacterial meningitis

2. Haematology: WBC count and differential, RBC

3. Chem. path: Protein and glucose concentration
4. Microbiology:
a. Gram stain
b. Culture and sensitivity/resistance: Bacteria, and if appropriate fungi, virus and mycobacteria
c. Serology
d. PCR: To diagnose bacteria in partially treated meningitis. Also for enteroviruses, HSV – more sensitive
and rapid than viral culture

***Diagnosis of meningitis using CSF. Normal values:

1. Normal WBC count:

a. Infants and children 5-10 lymphocytes/mononuclear cells per ml
b. Neonates up to 15-20 or 30 is normal (for memory, just add 10 to both the ULN and LLN for infants/children

2. Normal glucose: 45-80 mg/dl or 2/3 serum values

3. Normal CSF:Serum glucose ratio: is 50-60% (low in bacterial meningitis)
4. Normal Protein: is 0.15 – 0.45 g/L (same as 150 – 450 mg/L) (just remember platelets values – very similar)

***(From Dr. Reem ward rounds) RE: CSF WBC count:

• ***WBC needs to be corrected if RBC also present in CSF!!!
• Correct using 500. Ie. For every 500 RBC in CSF, subtract 1 WBC!!
 Wayne Robinson, MBBS Class of 2015

NOTE:
***Question: Can 3 cells in the CSF be significant in bacterial meningitis?
• Answer: YES, if they are neutrophils!!

***Reason for low CSF glucose in bacterial meningitis: GLUT1 transporter affected.

C. Urinalysis and urine C&S in infants

D. EEG (Electroencephalogram): May confirm and encephalitis component

E. Neuroimaging: CT or MRI

**Table with CSF findings in meningitis from path and microb lecture**

MANAGEMENT

A. General supportive Care

• Treat dehydration and shock
• Preservation of adequate cerebral perfusion by maintaining normal BP and managing increased ICP
• Close monitoring of fluids, electrolytes, glucose, acid-base disturbances, coagulopathies

B. Specific

Bacterial Meningitis

**If suspected or cannot be excluded, commence empiric antibiotic therapy immediately while awaiting
cultures or if LP contraindicated or delayed**

• Aim: Sterilization of the CSF using antibiotics AND maintenance of cerebral and systemic perfusion

• Due to increasing resistance of S. pneumonia to penicillins and cephalosporins, empirical cefotaxime or

ceftriaxone PLUS vancomycin should be administered until antibiotic susceptibility testing is available.

• Cefotaxime or ceftriaxone are also adequate to treat N. meningitides and H. influenzae

• *Infants younger than 2 months - Add ampicillin to cover possibility of listeria!!

• ***KNOW THIS: **Adjuvant dexamethasone** BEFORE antibiotics for Hib meningitis. REASON:
Significantly diminishes the incidence of hearing loss and neurologic deficits associated with Hib meningitis;
also consider for those > 6 wk with pneumococcal meningitis

Duration of treatment: 5-7 days for N. meningitides, 7-10 days for H. influenzae and 10-14 days for S. pneumonia.

Viral Meningitis
• Usually benign and self-limiting
• Mainly supportive (except for HSV)
• Acyclovir for HSV meningitis

PREVENTION

Vaccination against pneumococcus (see sickle cell notes for the available vaccines) and Hib
 Wayne Robinson, MBBS Class of 2015

COMPLICATIONS
[CLASSIFY: ACUTE vs. LONG-TERM]
• Mortality: Neonate 15-20%, children 4-8%; pneumococcus (25% mortality) > meningococcus (15%) > HiB
(8%)
[Note: Pneumococcus has highest mortality and highest risk of long-term complications]
• Acute:
o SIADH
o Subdural effusion/empyema (seen on CT/MRI – most do not need drainage unless assc with neurologic
signs),
o Brain abscess
o Disseminated infection (osteomyelitis, septic arthritis, abscess)
o Shock/DIC

• Long term sequelae (present in 35% survivors – esp after pneumococcal infection): deafness, blindness,
neuromotor/cognitive delay, learning disabilities, neurological deficit, seizure disorder, hydrocephalus

• ***ALL patients with meningitis should have a hearing evaluation before discharge and at follow-up
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Neonatal Jaundice and Hyperbilirubinaemia
Source: Nelson’s (Ch. 96.3)
October 2014

General points:

• Hyperbilirubinaemia is common and in most cases benign in neonates.

• Observed in first week of life in ~60% of term infants and 80% of preterm infants

• Bilirubin has a physiologic role as an antioxidant

• Elevations of INDIRECT/UNCONJUGATED bilirubin is potentially NEUROTOXIC

• Conjugated form is NOT neurotoxic, BUT may indicate a potentially serious hepatic or posthepatic illness

AETIOLOGY

Unconjugated bilirubin may be increased by any factor that does any of the following 4 things:

1. Increases the load of bilirubin to be metabolized by the liver:

a. Haemolytic anaemias
b. Polycythaemia
c. Bruising or internal haemorrhage (e.g. cephalhaematoma)
d. Increased enterohepatic circulation of bilirubin (e.g. due to intestinal obstruction ! more bili reabsorbed)
e. Infection
2. Damages or reduces the ACTIVITY of the transferase enzyme
a. Genetic, hypoxia, infection, hypothyroidism
3. Competes for or blocks the transferase enzyme
a. Drugs
4. Leads to absence or reduced AMOUNTS of the enzyme/reduction of bilirubin uptake by liver
a. Genetic, prematurity

***The toxic effects of high serum unconjugated bilirubin are increased by factors that reduce the retention of bilirubin
within the circulation (ie. increase ability to leave the circulation and enter unwanted sites)
• Include: Hypoproteinaemia, displacement of bilirubin from its binding site on albumin, competitive binding of
drugs to albumin e.g. sulfamethoxazole, ceftriaxone, acidosis

Neurotoxic effects also related to the permeability of the blood-brain barrier and nerve cell membranes and neuronal
susceptibility to injury – all of which are worsened by asphyxia, prematurity, infection

- Breast-feeding and dehydration increase serum bilirubin

- Delay in passage of meconium increases serum bilirubin – due to enterohepatic recirculation after deconjugation
by intestinal glucuronidase
- Diabetic mother is also a risk factor

Online source: It is important to note that only conjugated bilirubin appears in urine (unconjugated bilirubin is albumin
bound and water insoluble). The presence of bilirubin in urine almost always implies liver disease.

CLINICAL FEATURES

Jaundice usually becomes apparent in a cephalocaudal progression

 Wayne Robinson, MBBS Class of 2015
• General estimation: Face ~5 mg/dl, Mid-abdomen ~15 mg/dl, Soles ~20 mg/dl – But clinical exam CANNOT be
used to estimate serum levels reliably!!

Infants with severe hyperbilirubinaemia may present with lethargy and poor feeding and without treatment may progress
to BILIRUBIN ENCEPHALOPATHY (kernicterus)

DIFFERENTIAL DIAGNOSIS

• ** Jaundice, consisting of either indirect or direct bilirubin that is PRESENT AT BIRTH OR APPEARS WITHIN
THE FIRST 24 HOURS OF LIFE requires IMMEDIATE ATTENTION
o May be due to erythroblastosis fetalis, concealed haemorrhage, sepsis, congenital infections incl.
syphilis, CMV, rubella, toxoplasmosis (TORCH infections – a group of congenitally acquired infections
that cause significant morbidity and mortality)

• Jaundice appearing on 2nd or 3rd day is usually PHYSIOLOGIC – but may be due to Familial nonhaemolytic
icterus (Crigler-Najjar syndrome) or early-onset breastfeeding jaundice

• Jaundice appearing after the 3rd day but within 1st week suggests bacterial sepsis or UTI – or syphilis, toxo,
CMV, enterovirus

Polycythaemia may also lead to early jaundice

Long differential diagnosis for starting AFTER the 1st week of life. Includes:
• Breast milk jaundice
• Septicaemia
• Congenital atresia of bile ducts
• Hepatitis
• Galactosaemia
• Hypothyroidism
• Cystic fibrosis
• Congenital haemolytic anaemia – membranopathies (e.g. sphero- & elliptocytosis), enzymopathies (e.g. G6PD,
PK deficiency)

Persistent jaundice after 1st

month:
• Cholestasis
• Hepatitis
• CMV
• Syphilis
• Toxoplasmosis
• Crigler-Najjar
• Congenital atresia of bile-
ducts
• Galactosaemia

Complete diagnostic evaluation in

any patient with significant
hyperbilirubinaemia:

1. Measure bilirubin
(transcutaneous or serum)
in babies with jaundice.
2. Direct + Indirect bilirubin
3. Hb
 Wayne Robinson, MBBS Class of 2015
4. Ret count
5. Direct Coomb’s test
6. Blood smear

Also a good image to look through. Source: Toronto Notes

**This table is important to go through as it shows which causes conjugated and which causes unconjugated**

PHYSIOLOGIC JAUNDICE (ICTERUS NEONATORUM)

Becomes visible on the 2nd or 3rd day, peaks 3rd to 4th day, and decreases between 5th and 7th (So 2-3, 3-4, 5-6, 10-14)
**Indirect bilirubin levels in term infants decline to adult levels by 10-14 days of life
• CAUSES INDIRECT HYPERBILIRUBINAEMIA

Believed to be due to:

1. Increased bilirubin production from the breakdown of fetal RBCs and
2. Immaturity of hepatic bilirubin conjugation system (transient)
3. Increased enterohepatic circulation

***Persistent indirect hyperbilirubinaemia (> 14 days) suggests haemolysis, hereditary glucuronyl transferase
deficiency (Gilbert syndrome), breast milk jaundice, hypothyroidism, intestinal obstruction

PATHOLOGIC HYPERBILIRUBINAEMIA

Assume any jaundice in first 24 hours is pathological

Toronto: Jaundice in the first 24 h and conjugated hyperbilirubinemia are always pathological.

Risk factors incl: Asian, prematurity, breast-feeding, weight loss

Some causes: Gilbert syndrome, G6PD deficiency, mutations in glucuronyl transferase gene

Greatest risk associated with indirect hyperbili: BILIRUBIN ENCEPHALOPATHY (KERNICTERUS)

• Development depends on the level of indirect bili, duration of exposure, infant’s wellbeing
• May occur at lower bilirubin levels in preterm infants

BREAST-MILK VS BREAST-FEEDING JAUNDICE

Breast-milk jaundice develops in ~ 2% of breastfed term infants after the 7th day of life. Peaks in 2nd – 3rd week
 Wayne Robinson, MBBS Class of 2015
• If breastfeeding is continued, may persist for up to 3-10 weeks but gradually decreases
• INDIRECT HYPERBILIRUBINAEMIA
• Cause unclear but related to presence of glucuronidase in milk
• Phototherapy may benefit. Kernicterus may occur but uncommon.
• Should be distinguished from:

Breast-feeding jaundice: early-onset breast-feeding jaundice which occurs in 1st week of life (usu in 1st 3 days) in
breastfed infants. Hyperbilirubinaemia develops in 13% of breastfed infants in 1st week of life and may be due to
decreased milk intake/production with dehydration and reduced caloric intake --> Exaggerated physiologic
jaundice. Worsened if given glucose water as this is even less calorie dense

Frequent breastfeeding and ongoing lactation may reduce the incidence. Should continue breastfeeding still

KERNICTERUS AKA. BILIRUBIN ENCEPHALOPATHY

A neurologic syndrome resulting from the deposition of unconjugated bilirubin in the BASAL GANGLIA AND
BRAINSTEM NUCLEI

Multifactorial pathogenesis:
• Involves unconjugated bili, albumin binding and unbound bilirubin, passage across BBB and neuronal
susceptibility to injury

• Disruption of BBB by asphyxia, disease increase risk

• Precise blood level of indirect bilirubin that causes kernicterus in an individual infant is unpredictable – large
study showed all cases > 20 mg/dl
• 90% developed in previously healthy, mainly breastfed, near-term infants

• More immature the infant = more susceptibility to kernicterus

CLINICAL FEATURES

Signs and symptoms usually appear 2-5 DAYS AFTER BIRTH IN TERM INFANTS (EARLIER)
o AS LATE AS 7TH DAY IN PREMATURE
o But may occur at any time in neonatal period

• Initial signs: Lethargy, poor feeding and loss of Moro reflex are common

• After this, infant may appear seriously ill and prostrate

o DECREASED tendon reflexes
o Respiratory distress

o Opisthotonos with a bulging fontanelle + twitching of face/limbs may follow

• Advanced cases:
o Convulsions and spasms
o Stiff extension of arms with inward rotation and clenched fists

• *Many infants who progress to this severity die (> 75%)

Survivors usually seriously damaged:

• First 2-3 months: APPEAR to recover and show few abnormalities

• Later in 1st year: Opisthotonus, muscle rigidity, irregular movements, convulsions recur
 Wayne Robinson, MBBS Class of 2015

• 2nd year: Opisthotonus and seizures abate – Involuntary muscle movements, rigidity or hypotonia increase

• 3rd year: Complete neurologic syndrome apparent. Bilateral choreoathetosis, involuntary spasms, seizures, mental
deficiencies, dysarthric speech, hearing loss, squinting, defective upward eye movement
o Hypotonia + ataxia in some

Some cases milder: Partial deafness, minimal brain dysfunction

TREATMENT OF HYPERBILIRUBINAEMIA

o Regardless of cause, goal is to prevent neurotoxicity while not causing undue harm

o Phototherapy and if unsuccessful, exchange transfusion are the primary treatment modalities used to keep
serum bilirubin low
o Treat underlying cause when identified

PHOTOTHERAPY:
• FOR UNCONJUGATED HYERBILIRUBINAEMIA ONLY
• Indirect hyperbilirubinaemia reduced by exposure to high intensity of light. Bilirubin absorbs light maximally
in the blue range.
• May use age/gestation specific charts to determine level to start phototherapy

• Mode of action: Bilirubin in the skin absorbs light energy causing several photochemical reactions. One major
product of phototherapy is due to photoisomerization reaction converting toxic native unconjugated bilirubin
into another unconjugated isomer which can be excreted in bile without conjugation
• Other major product of phototherapy is lumirubin which can be excreted by kidneys in unconjugated state

• Dark skin does NOT reduce the efficacy of phototherapy

• Use of phototherapy has decreased the need for exchange transfusion. BUT when indications for exchange
transfusion are present, phototherapy should not be used as a substitute

• Must cover eyes

• Should be discontinued as soon as bilirubin is in safe range

• Measure serum bilirubin 4-24 hrly during therapy. Continue monitoring serum bilirubin for at least 24 hrs

Complications
• Loose stools
• Macular rash
• Purpuric rash
• Overheating
• Dehydration
• Hypothermia
• Bronze baby syndrome – benign condition – dark brown discolouration of infant

**Contraindicated in the presence of porphyria AND CONJUGATED HYPERBILIRUBINAEMIA

**There are no known long-term effects of phototherapy

 Wayne Robinson, MBBS Class of 2015
IVIG – useful in hyperbilirubinaemia due to IMMUNE HAEMOLYTIC ANAEMIAS

EXCHANGE TRANSFUSION:

Double-volume exchange transfusion is performed if intensive phototherapy has failed and if risk of kernicterus exceeds
risk of procedure

Complications are not trivial:

1. Metabolic acidosis
2. Electrolyte abnormalities
3. Hypoglycaemia
4. Hypocalcaemia
5. Thrombocytopaenia
6. Volume overload
7. Arrhythmias
8. Infection
9. GVHD
10. Death

Repeated if necessary to keep bilirubin in safe range

SEE INDICATIONS:
1. Appearance of clinical signs suggesting kernicterus
2. Most commonly performed for haemolytic disease and G6PD deficiency
3. …

Straight from Toronto notes:

BILIARY ATRESIA
Definition
• atresia of the extrahepatic bile ducts which leads to cholestasis and increased conjugated
bilirubin after the first week of life
Epidemiology
• incidence: 1:10,000-15,000 live births
Clinical Presentation
• dark urine, pale stool, jaundice (persisting for >2 wk), abdominal distension, hepatomegaly
Diagnosis
• conjugated hyperbilirubinemia, abdominal ultrasound
• HIDA scan
• liver biopsy
Treatment
• surgical drainage procedure
• hepatoportoenterostomy (Kasai procedure; most successful if <8 wk of age)
• usually requires liver transplantation
• vitamins A, D, E, and K; diet should be enriched with medium-chain triglycerides to ensure
adequate fat ingestion
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Nephritic Syndrome, Poststreptococcal GN, Haemolytic Uraemic Syndrome, Other causes
Sources: Toronto, Oxford, Nelson’s for PSGN
October 2014
**Use this along with notes on haematuria**
**Notes addresses nephritic syndrome first, then goes into some of the common causes e.g. PSGN**

DEFINITION
• Acute or chronic syndrome affecting the kidney, characterized by glomerular injury and inflammation, and
defined by haematuria (> 5 RBCs per high-powered microscope field – Tea or cola/pepsi-colored urine since
problem is at the glomerular level) and the presence of dysmorphic RBCs (eg. acanthocytes) and RBC casts on
urinalysis

• Often accompanied by at least one of:

o Hypertension
o Proteinuria (< 50 mg/kg/d) – (Ie. Not nephrotic-range proteinuria. Less.)
o Facial or body oedema
o Azotemia and oliguria

EPIDEMIOLOGY
• Highest incidence in children aged 5-15 yr old (Coincides with age for strep pharyngitis)

AETIOLOGY
• Humoral immune response to a variety of aetiologic agents --> immunoglobin deposition --> complement
activation, leukocyte recruitment, release of growth factors/cytokines --> glomerular inflammation and injury -
-> porous podocytes -> haematuria + RBC casts ± proteinuria
• **Hypertension secondary to fluid retention and increased renin secretion by ischemic kidneys
• Primary (idiopathic) vs. secondary (to a systemic disease), low complement levels vs. normal complement levels

• Majority of cases post-infectious

• Usually presents 1–2 wks after a URTI and sore throat.

RISK FACTORS
• Recent streptococcal pharyngitis or skin infection, systemic illnesses

HISTORY AND PHYSICAL

• Often asymptomatic; some overlap in clinical findings for nephritic and nephrotic syndrome
• Gross haematuria (Tea- or cola-colored urine), mild-moderate oedema, oliguria
• Signs and symptoms suggestive of underlying systemic causes (e.g. fever, arthralgias, rash, dyspnea,
pulmonary hemorrhage)
 Wayne Robinson, MBBS Class of 2015

INVESTIGATIONS
***(So want to look at BLOOD and URINE and consider biopsy)***
Urine
• Dipstick (haematuria, 0 to 2+ proteinuria)
• Urine microscopy (>5 RBCs per high-powered microscope field, acanthocytes, RBC casts)
• “First morning” urine protein:creatinine ratio (<200 mg/mmol)

Blood work
• CBC: Mild anaemia on CBC (secondary to haematuria)
• Albumin: Hypoalbuminaemia (secondary to proteinuria)

• U&Es: Impaired renal function (Cr and BUN) resulting in pH and electrolyte abnormalities (hyperkalemia,
hyperphosphataemia, hypocalcaemia)

• Appropriate investigations to determine aetiology: *C3/C4 levels, serologic testing for *recent streptococcal
infection (ASOT, anti-hyaluronidase, anti-streptokinase, anti-NAD, anti-DNase B), *ANA, *anti-DNA
antibodies, ANCA, serum IgA levels, anti-GBM antibodies

Renal biopsy
• ***NOTE WELL: Should be considered only in presence of: acute renal failure, no evidence of streptococcal
infection, normal C3/C4, low C3 (hypocomplementaemia) persisting for > 2 months

MANAGEMENT

• Treat underlying cause

• Symptomatic
o Renal insufficiency: Supportive (dialysis if necessary), proper hydration
o Hypertension: Salt and fluid restriction (but not at expense of renal function), ACE inhibitors or ARBs
for chronic persistent HTN (not acute cases since ACE inhibitors or ARBs may decrease GFR further)
o Oedema: Salt and fluid restriction, possibly diuretics (avoid if significant intravascular depletion)
• Corticosteroids if indicated: IgA nephropathy, lupus nephritis, etc.

PROGNOSIS
• Dependent on underlying aetiology
• Complications include hypertension, heart failure, pulmonary oedema, chronic kidney injury (requiring renal
transplant)

ACUTE POSTSTREPTOCOCCAL GLOMERULONEPHRITIS (APSGN)

(Big Nelson’s Ch. 505)

Group A Strep (GAS) infections common in children and can lead to the postinfectious complication of GN.

“APSGN is a classic example of acute nephritic syndrome”!!! Characterized by the sudden onset of gross haematuria,
oedema, hypertension and renal insufficiency

ONE OF the most common causes of gross haematuria in children (UTI is the most common)

INCIDENCE
• Most common in children aged 5-12
• Uncommon before age 3
• M>F
 Wayne Robinson, MBBS Class of 2015
AETIOLOGY

PSGN follows throat OR skin infection by “NEPHRITOGENIC” STRAINS of GAS

NOTE WELL: PSGN commonly follows *streptococcal pharyngitis in cold months and *streptococcal skin
infections or pyoderma in warm months (So don’t forget that it may be pharyngitis or skin infection!! Illicit in history!!)

PATHOLOGY
• Kidneys appear SYMMETRICALLY enlarged
• Glomeruli appear enlarged and show diffuse mesangial cell proliferation
• Neutrophil infiltration common in glomeruli in the early stage

• Immunofluorescence microscopy reveals a pattern of “lumpy-bumpy” deposits of immunoglobulin and

complement on the glomerular basement membrane

PATHOGENESIS

Morphology studies + depression in serum complement (C3) levels provide strong evidence that PSGN is mediated by
IMMUNE COMPLEXES

Exact mechanisms not fully known. ***Some proven ones include:

1. Circulating IMMUNE COMPLEX formation with streptococcal antigens followed by glomerular deposition of
these complexes
2. MOLECULAR MIMICRY whereby circulating antibodies formed against streptococcal antigens react with
normal glomerular antigens
3. Complement activation by directly deposited streptococcal antigens

Group A strep possess M proteins and nephritogenic strains are related to the M-protein serotype. The exact nephritogenic
antigens on or produced by the GAS are not fully known.

CLINICAL MANIFESTATIONS

**Typical patient develops acute nephritic syndrome 1-2 weeks after a *streptococcal pharyngitis OR 3-6 weeks after
a *streptococcal pyoderma
**History of a specific infection may be absent because symptoms may have been mild or gone unnoticed

See all the features of nephritic syndrome on page 1

Also non-specific symptoms common: Malaise, lethargy, abdominal pain, flank pain

ALSO NOTE:!!!
• The severity of kidney involvement varies!!:
o From asymptomatic microscopic haematuria to gross haematuria with acute renal failure

NOTE WELL: Patients are at risk for developing ENCEPHALOPATHY and/or HEART FAILURE, both
secondary to hypertension. The encephalopathy may also result from toxins produced by GAS

***MUST KNOW: HYPERTENSIVE ENCEPHALOPATHY must be considered in patients with blurred vision, severe
headaches, altered mental status, new seizures. MUST ASK IN HISTORY!

Heart failure and pulmonary oedema: Respiratory distress, orthopnoea, cough. MUST ASK!

Peripheral oedema: Due to salt and water retention!! Very uncommonly (< 5%) due to nephrotic syndrome in childhood
cases. ASK ABOUT EYE/LEG SWELLING!
 Wayne Robinson, MBBS Class of 2015

***ACUTE PHASE USUALLY RESOLVES IN 6-8 WEEKS**

Proteinuria and HTN usually resolve by 4-6 weeks after onset BUT persistent microscopic haematuria can persist for 1-2
years

DIAGNOSIS
(See nephritic syndrome section above for excluding differentials)

• URINALYSIS: RBCs, often with RBC casts, proteinuria, neutrophils

• CBC: Mild normochromic, normocytic anaemia due to haemodilution

• *SERUM C3 LEVEL! – Significantly reduced in > 90% of patients in the acute phase. Returns to normal 6-8
weeks after onset!!
o NOTE: C4 is often normal or only mildly depressed
- NB: C3-C9 may be elevated. Normal C1 and C4

NOTE VERY WELL: CONFIRMATION OF THE DIAGNOSIS REQUIRES CLEAR EVIDENCE OF

PRIOR STREPTOCOCCAL INFECTION!!!

***Positive throat culture may support the diagnosis or may simply suggest the carrier state BUT RISING
ANTIBODY TITRE (serology) to streptococcal antigens CONFIRMS a recent strep infection

• *SEROLOGY: Antibodies titres assessed:

1. ASO titre – commonly elevated after pharyngeal infection but rarely increases after streptococcal skin
infections

2. ***The single best antibody titer to document cutaneous streptococcal infection is the anti-
deoxyribonuclease B (anti-DNase B) level

3. Anti-hyaluronidase

**NB: Serologic evidence of strep infection more sensitive than history of recent infection and far more sensitive than
positive bacterial cultures obtained at the onset of acute nephritis

• MRI OF BRAIN indicated in patients with severe neurological symptoms and can demonstrate reversible
posterior leukoencephalopathy

• Chest X-ray in patients with signs of heart failure

The clinical diagnosis of PSGN is likely in a child presenting with acute nephritic syndrome, evidence of recent strep
infection and a low C3 level. But must consider differentials such as SLE.

Differential diagnosis includes many of the causes of haematuria – See notes on haematuria

See indications for renal biopsy in nephritic syndrome above

**ACUTE POST-INFECTIOUS GN CAN ALSO FOLLOW OTHER INFECTIONS INCL COAGULASE POSITIVE
AND COAGULASE NEGATIVE STAPH, STREP PNEUMONIAE, GRAM-NEGATIVE BACTERIA

COMPLICATIONS
*Acute complications result from hypertension and acute renal dysfunction

• HYPERTENSION IS SEEN IN 60% OF PATIENTS AND IS ASSOCIATED WITH HYPERTENSIVE

 Wayne Robinson, MBBS Class of 2015
ENCEPHALOPATHY IN 10% OF CASES

• Severe prolonged HTN can lead to intracranial bleeding

• Other complications: Heart failure, hyperkalaemia, hyperphosphataemia, hypocalcaemia, acidosis, seizures,

uraemia

• Acute renal failure may require dialysis

TREATMENT

• Mainly supportive
• Directed at treating the acute effects of renal insufficiency and HTN
• Penicillin for 10 days

• NOTE WELL: Although a 10 day course of systemic antibiotic therapy with PENICILLIN is recommended to
limit the spread of nephritogenic organisms, ANTIBIOTIC THERAPY DOES NOT AFFECT THE NATURAL
HISTORY OF GN

• For HTN: Standard therapies used are sodium restriction, diuresis with IV furosemide, drug therapy with calcium
channel blockers, vasodilators, ACEis

PROGNOSIS

• Complete recovery occurs in > 95% of patients with PSGN

• Recurrences are extremely rare
• Mortality can be avoided by appropriate management of ARF, CCF and HTN

Other causes of GN to know something about:

1. IgA Nephropathy: More variable and may take the form of acute GN, asymptomatic microscopic hematuria, or recurrent
gross hematuria concurrent with an upper respiratory infection as opposed to several days later, as with PSGN. Lab findings:
↑ Serum IgA (50%). Treatment: Uncertain (options include steroids, fish oil, and ACE inhibitors)

2. Membranoproliferative GN

3. Haemolytic Uraemic Syndrome (See below)

4. Henoch-Schonlein purpura: Most common small vessel vasculitis in childhood. Characterized by a purpuric rash and
arthritis and abdominal pain. ~50% of patients with HSP develop renal manifestations, mediated by the deposition of IgA
in glomeruli. Glomerular findings can be indistinguishable from those of IgA nephropathy. Nephritis that can accompany
HSP usually follows onset of the rash, often weeks or even months after the initial presentation of the disease. Treatment:
Spontaneous and complete resolution of the nephritis typically occurs in those with mild initial manifestations. Studies have
reported benefit from aggressive immunosuppression (high-dose and extended courses of corticosteroids with
cyclophosphamide or azathioprine) in patients with poor prognostic features.

5. Alport syndrome: Sensorineural deafness with progressive nephritis. Caused by X-chromosome mutations in type IV
collagen leading to an abnormal glomerular basement membrane (GBM) and may present with either asymptomatic
microscopic or gross hematuria. Males typically develop progressive renal failure and sensorineural hearing loss during
adolescence and young adulthood. Females typically have a more benign course but usually have at least microscopic
hematuria.

6. Goodpasture syndrome: Goodpasture disease is characterized by pulmonary hemorrhage and glomerulonephritis.

Results from the attack of these normal organs by antibodies directed against specific epitopes of type IV collagen within
the alveolar basement membrane in the lung and glomerular basement membrane (GBM) in the kidney. The etiology
of these antibodies is unknown. Rare in childhood. Patients usually present with haemoptysis from pulmonary
 Wayne Robinson, MBBS Class of 2015
hemorrhage that can be life threatening. Concomitant renal manifestations include acute nephritic syndrome. Diagnosis
is made by a combination of the clinical presentation of pulmonary hemorrhage with acute glomerulonephritis, the presence
of serum antibodies directed against GBM. Untreated, the prognosis of Goodpasture disease is poor. The combination of
high-dose intravenous methylprednisolone, cyclophosphamide, and plasmapheresis appears to improve the possibility of
survival

7. SLE associated GN

HAEMOLYTIC URAEMIC SYNDROME (TORONTO NOTES)

DEFINITION
Simultaneous occurrence of the triad of:
1) Non-immune microangiopathic haemolytic anemia
2) Thrombocytopenia and
3) Acute renal injury

***Most common cause of acute renal failure in children

(Note: Name gives away 2 of the 3: Haemolytic ! Haemolytic anaemia, Uraemic ! Acute renal injury)

AETIOLOGY
• Diarrhea positive HUS: 90% of pediatric HUS from E. coli O157:H7, shiga toxin or verotoxin
• Diarrhea negative HUS: other bacteria, viruses, familial, drugs

PATHOPHYSIOLOGY
• Toxin binds, invades and destroys colonic epithelial cells, causing bloody diarrhea
• Toxin enters the systemic circulation, attaches and injures endothelial cells (especially in kidney) causing a release of
endothelial products (e.g. von Willebrand factor, platelet aggregating factor)
• Form platelet/fibrin thrombi in multiple organ systems (e.g. kidney, pancreas, brain, etc.) resulting in thrombocytopenia
• RBCs are forced through occluded vessels resulting in fragmented RBCs (schistocytes) that are removed by the
reticuloendothelial system (haemolytic anaemia)

HISTORY AND PHYSICAL

• Initial presentation of abdominal pain and diarrhea, followed by bloody diarrhea
• Within 5-7 d begins to show signs of anaemia, thrombocytopenia and renal insufficiency
• Other findings in history: weakness, lethargy, oliguria
• Physical exam: Pallor, jaundice (hemolysis), oedema, petechiae, hypertension

INVESTIGATIONS
• CBC (anemia, thrombocytopenia), blood smear (schistocytes), electrolytes, renal function, urinalysis (microscopic
hematuria), stool cultures and verotoxin/shigella toxin assay

MANAGEMENT
• Mainly supportive: Nutrition, hydration, ventilation (if necessary), blood transfusion for symptomatic anemia
• Monitor electrolytes and renal function: dialysis if electrolyte abnormality cannot be corrected, fluid overload, or uremia
• Steroids are NOT helpful
• Antibiotics are contraindicated because death of bacteria leads to increased toxin release and worse clinical course

PROGNOSIS
• 5-10% mortality, 10-30% renal damage
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Nephrotic Syndrome Notes
Source: Nelson’s (Ch. 521), Toronto
September 2014

DEFINITION
Clinical syndrome affecting the kidney, characterized by nephrotic-range proteinuria, peripheral oedema,
hypoalbuminaemia, and hyperlipidemia

• **Nephrotic-range proteinuria definitions (Lecture):

1. > 50 mg/kg/d in 24 hour urine collection
2. > 40 mg/m2/hr in 12-24 hour urine collection
3. First morning protein:creatinine ratio > 2
4. 4+ proteinuria on at least 5 consecutive urines

• *Hypoalbuminaemia (< 20-25 g/L)

A manifestation of glomerular disease

INCIDENCE
• Highest incidence in children of 2 – 6 yr old,
• M>F (2:1) in childhood. M=F in adolescence

AETIOLOGY
[CLASSIFY: Primary vs. Secondary]

1. Primary/Idiopathic nephrotic syndrome (>90%); Nephrotic syndrome (NS) in the absence of systemic
disease (most common cause in pediatrics)
• Glomerular inflammation ABSENT on renal biopsy:
i. Minimal change disease (>90% of all NS)
ii. Focal segmental glomerular sclerosis (FSGS)

• Glomerular inflammation PRESENT on renal biopsy:

i. Membranoproliferative glomerulonephritis, mesangial proliferative GN, membranous
nephropathy, IgA nephropathy, other minor causes

2. Secondary nephrotic syndrome: NS associated with systemic disease or due to another process causing
glomerular injury (very rare in pediatrics)
• Infections: Post-streptococcal, HBV/HCV infective endocarditis, HUS, HIV, HTLV-1 etc.
• Autoimmune: SLE, Henoch-Schonlein (HSP), diabetes mellitus, rheumatoid arthritis (JRA), etc.
• Genetic: Sickle cell disease, Alport syndrome, etc.
• Malignancies: Leukemia, Hodgkin’s lymphoma, etc.
• Medications: Captopril, penicillamine, NSAIDs, anticonvulsants, etc.

3. Congenital nephrotic syndrome: Congenital nephropathy of the Finnish type, Denys-Drash syndrome, etc.

SEE NELSON’S TABLE

PATHOPHYSIOLOGY

The protein loss causes a lot of the problems. Many significant important molecules in the blood are proteins incl. albumin,
enzymes, immunoglobulins etc. So, many problems associated.

!
 Wayne Robinson, MBBS Class of 2015
1. PROTEINURIA and 2. HYPOALBUMINAEMIA: ***Underlying abnormality is increased permeability of the
glomerular capillary wall --> Massive proteinuria and hypoalbuminaemia
• On biopsy, extensive effacement of podocyte foot processes (the HALLMARK OF IDIOPATHIC NEPHROTIC
SYNDROME)

3. OEDEMA: Massive protein loss --> Hypoalbuminaemia --> disequilibrium of Starling’s forces --> decreased plasma
oncotic pressure --> transudation of fluid from intravascular to interstitial compartment --> oedema (when serum albumin
< 25 g/l)
ALSO:
• Decreased IV volume --> Decreased renal perfusion pressure --> activates RAAS --> stimulates Na and H2O
reabsorption
• Decreased IV volume --> also stimulates ADH --> stimulates water reabsorption in collecting duct

4. HYPERCHOLESTEROLAEMIA AND HYPERTRIGLYCERIDAEMIA:

Serum lipid levels elevated for 3 reasons:

1. Hypoalbuminaemia -> stimulates hepatic protein synthesis with increased alpha-2 macroglobulins AND
LIPOPROTEINS
2. Loss of enzyme lipoprotein lipase in urine
3. Decreased transport of lipids to adipose tissue

5. HYPERCOAGULABLE STATE

Hypercoagulable state -> Thromboembolic events

1. Increased hepatic production of clotting factors and fibrinogen
2. Decreased serum anticoagulation factors

6. INCREASED INFECTIONS

Increased risk of infections (sepsis, peritonitis, pyelonephritis) – especially with encapsulated organisms incl s. pneumonia
and H influenza
1. Urinary loss of complement factor C3b
2. Loss of opsonins
3. Loss of immunoglobulins
4. Immunosuppresive medications (eg. steroids) used to treat nephrotic

IDIOPATHIC NEPHROTIC SYNDROME

Primary glomerular disease without evidence of a systemic cause
Accounts for 90% of nephrotic syndrome in children

Multiple histologic types: Minimal change nephrotic syndrome (MCNS), mesangial proliferation, FSGS, membranous
nephropathy, membranoproliferative glomerulonephritis
• Mediated by immune system modulation. Shown by – use of immunosuppressive drugs controls some causes,
MCNS assc with T-lymphocyte disorders

M>F, 2:1

PATHOLOGY

MCNS – Cause of 85-90% of nephrotic syndrome in children < 6 years (in adolescents accounts for only 20-30% pts
presenting for the 1st time. FSGS more common in this age group)

!
 Wayne Robinson, MBBS Class of 2015
• Glomeruli appear normal or show a minimal increase in mesangial cells with retraction of podocytes on renal
biopsy
• Present with the features of nephrotic syndrome (above). Also, anorexia, abdominal pain, diarrhoea common
• May have preceding URTI
• ***Very important in MCNS:
o NO HTN
o NO CCF
o NO GROSS HAEMATURIA

• *** > 95% respond to corticosteroid therapy

FSGS:
• Glomeruli show lesions that are both focal (present only in a proportion of glomeruli) and segmental (localized to
>/= to 1 intraglomerular tuft)
• Segmental scarring
• Only 20% respond to prednisone
• NOTE: Often progressive ultimately involving all glomeruli and ultimately leads to end-stage renal disease in
most patients

HISTORY AND EXAM

***Initial episode usually follows minor infections

Oedema:
• Often first sign; detectable when fluid retention exceeds 3 to 5 percent of body weight
• Starts periorbital and often pretibial -> oedematous areas are white, soft, and pitting
• Gravity dependent: periorbital oedema decreases and pretibial oedema increases over the day
• Anasarca may develop (i.e. marked periorbital and peripheral oedema, ascites, pleural effusions, scrotal/labial
oedema)

Non-specific features common: (e.g. irritability, malaise, fatigue, anorexia, diarrhea)

***Important in MCNS: NO HTN, NO CCF AND NO GROSS HAEMATURIA**

DDx of marked oedema: (think all the possible ways to lose protein or decreased protein intake/absorption/production,
then kidney pathology, CCF) Protein-losing enteropathy, hepatic failure (decreased production), heart failure, acute or
chronic glomerulonephritis, protein malnutrition

INVESTIGATIONS

1. Urine
• Urine dipstick (3 to 4+ proteinuria, microscopic hematuria (only 20%))
• Spot protein:creatinine ratio > 2
• Urinary protein: See first page

2. Bloodwork

• Diagnostic:
o Hypoalbuminaemia (< 25 g/L)
o Hyperlipidemia/hypercholesterolemia (total cholesterol > 5 mmol/L)

• Secondary:
o Electrolytes (hypocalcaemia, hyperkalemia, hyponatraemia)
!
 Wayne Robinson, MBBS Class of 2015
o Renal function (BUN and Cr), coagulation profile (PTT)

Appropriate investigations to rule out secondary causes of NS (think of all the differentials in order to remember):
• CBC, blood smear, C3/C4, ANA, HBV/HCV titers, ASOT, HIV serology, VDRL etc.

Renal biopsy in those presenting with atypical features and steroid resistant NS

TREATMENT
Establish diagnosis of cause and severity of the NS

A. GENERAL/SYMPTOMATIC

Oedema control:
• Mild: Salt and fluid restriction, possibly diuretic (avoid if significant intravascular depletion); spironolactone;
may add chlorothiazide.
• Severe/Anasarca: Furosemide + albumin (25%?) for anasarca. EXTREME CAUTION WITH DIURETIC
THERAPY. MAY SIGNIFICANTLY INCREASE RISK FOR THROMBOSIS

Hyperlipidemia: generally resolves with remission; limit dietary fat intake; consider statin therapy if persistently nephrotic

Hypoalbuminaemia: IV albumin and Lasix® NOT routinely given; consider if refractory oedema

Abnormal BP: Control BP; fluid resuscitation if severe intravascular depletion; ACE inhibitors or ARBs for persistent
HTN
Diet: NAS (no added salt) diet; monitor caloric intake and supplement with Ca2+ and Vit D if on corticosteroids

**Daily weights and blood pressure 4 hrly to assess therapeutic progress

Secondary infections:
• Treat with appropriate antimicrobials; antibiotic prophylaxis not recommended
• Pneumococcal vaccine at diagnosis and varicella vaccine after remission; varicella Ig +
• Acyclovir if exposed to varicella while on corticosteroids
• No live vaccines while on immune-modulating agents

Secondary hypercoagulability: mobilize, avoid haemoconcentration due to hypovolaemia, prompt sepsis treatment;
heparin if thrombi occur

B. SPECIFIC (LECTURE)
Minimal change disease:
Induction of remission:
• Oral prednisone 2 mg/kg/d (or equivalent) for 28 days (or until remission for relapses) – varicella status
should be known before starting

Maintenance of remission:
• Prednisone 2 mg/kg/d as single dose, alternate days for 28 days; then taper over 2-3 months

Steroid resistance = No remission with high-dose daily predisone after 28 days:

• Consider cytotoxic agents, immunomodulators or high-dose pulse corticosteroid if steroid resistant
• Cyclophosphamide
• Cyclosporine
• Tacrolimus
• Mycophenolate mofetil

!
 Wayne Robinson, MBBS Class of 2015
Monitoring MCNS progress (Lecture)
MUST KNOW:
• Remission = trace/negative proteinuria for 3-5 consecutive days

• Relapse = proteinuria ≥ 2+ (cloudy urine on SSA) for 3-5 consecutive days or ≥ 2+ proteinuria with oedema

COMPLICATIONS

• Increased risk of infections (spontaneous peritonitis (strep pneumoniae most common), cellulitis, sepsis);

• Acute renal failure

• Hypercoagulability due to decreased intravascular volume, increased fibrinogen, factor V and factor VIII and
antithrombin III depletion (pulmonary embolism, renal vein thrombosis; intravascular depletion-hypotension,
shock, renal failure; side effects of drugs)

• Complications of steroid therapy

!
 Wayne Robinson, MBBS Class of 2015 1
Paediatrics
Pneumonia Notes
Source: Nelson’s (Ch 392), Oxford
September 2014

DEFINITION

• Inflammation of the lower respiratory tract and lung parenchyma

INCIDENCE

• WHO 2004: Pneumonia is the leading killer of children < 5 yrs worldwide

NOTE:
o Bronchiolitis peaks in first year of life
o Viral pneumonia peaks between age 2-3

AETIOLOGY
[CLASSIFY: Infectious (Viral/Bacterial/TB) vs. Noninfectious (Aspiration/Drugs/Radiation))

MUST KNOW: VERY IMPORTANT TABLE (FROM NELSON’S)

Oxford:
• Neonates: Group B streptococcus, Escherichia coli, Klebsiella, Staphylococcus aureus
• Infants: Streptococcus pneumoniae, Chlamydia trachomatis
• School age: Streptococcus pneumoniae, Staphylococcus aureus, group A streptococcus, Bordetella pertussis,
Mycoplasma pneumoniae.

Noninfectious causes:
• Aspiration of food, gastric acid, foreign bodies
• Hypersensitivity reactions
• Drug or radiation induced pneumonitis

• Children with HIV: M Tuberculosis, pneumocystis jiroveci (PCP/PJP), atypical mycobacterium, Salmonella,
E coli
• Cystic fibrosis: Pseudomonas
 Wayne Robinson, MBBS Class of 2015 2
Viral pathogens are a common cause of LRTIs in infants and children < 5 yrs old. Influenza virus and RSV most
common. (To remember: So basically the same viral organisms that cause bronchiolitis)
• Others: Parainfluenza virus, adenovirus, rhinovirus, human metapneumovirus

PATHOGENESIS

Viral pneumonia:
• Direct injury of resp epithelium -> airway obstruction from swelling, abnormal secretions, cellular debris.
• Small caliber of airways in young infants makes them susceptible to severe infection

• Atelectasis, interstitial oedema, ventilation-perfusion mismatch causing significant hypoxemia often accompany
airway obstruction.

VIRAL INFECTION OF THE LRT CAN PREDISPOSE TO SECONDARY BACTERIAL INFECTION

Bacterial pneumonia:
• Occurs when respiratory tract organisms colonize the trachea and subsequently gain access to the lungs. May also
result from direct seeding of lung tissue after bacteremia

Recurrent pneumonia: is defined as 2 or more episodes in a single year OR 3 or more episodes ever. Must consider an
underlying disorder

CLINICAL MANIFESTATIONS

NOTE WELL: PNEUMONIAS OFTEN PRECEDED BY SYMPTOMS OF A URTI

Viral pneumonia:
• Fever usually present
o LOWER TEMPERATURES than bacterial pneumonia

• RESPIRATORY DISTRESS manifested by:

o SOB
o Tachypnoea is the most consistent clinical manifestation of pneumonia
o Grunting
o Nasal flaring
o IC, SC, suprasternal recession
o Accessory muscle use – look up accessory muscles

• Severe infection -> Cyanosis

• Pulse oximetry should be performed on every child admitted to hospital with pneumonia. SpO2 ≤92% in
room air indicates severe illness.

• Auscultation: +/- crackles and wheeze

Bacterial pneumonia:
• Typically begins suddenly with shaking chills and then high fever, cough (> 7 y.o produce sputum), chest pain

• Other symptoms: Tiredness, restlessness, tachypnoea, anxiety, circumoral cyanosis

o +/- splinting on affected side to minimize pleuritic chest pain and improve ventilation

• Examination:
o Diminished breath sounds
o Crackles
o Wheeze
 Wayne Robinson, MBBS Class of 2015 3

• Increasing consolidation OR complication such as effusion, empyema, pyothorax ->

o Dull percussion, increased TVF and VR

ALSO:
• Abdominal distension -> swallowed air OR ileus

• **Liver may seem enlarged -> Reason: downward displacement of the diaphragm secondary to hyperinflation
of lungs

INFANTS:
• URTI prodrome symptoms, diminished appetite, abrupt onset of fever, restlessness, respiratory distress
• Appear ill
• Tachypnoea, resting respiratory rate of 70 breaths/min in infants or > 50 breaths/min in children indicates
severe illness
• Tachycardia
• Nasal flaring
• IC, SC, suprasternal recession

• *** Infants may have associated GI disturbances!!: Vomiting, anorexia, diarrhoea, and abdominal distension
2nd to ileus

DIAGNOSIS

Oxford
1. CBC: WBC count AND differential: May be useful in differentiating viral from bacterial pneumonia (See below)
2. Sputum: Culture may be of limited value.
3. Nasopharyngeal aspirate: Viral immunofluorescence in infants.
4. Blood: Culture should be done in all children with severe bacterial pneumonia (not necessary in community-acquired pneumonia).
5. CXR: Not routine
6. Pleural fluid: When there is a significant pleural effusion, an aspirated sample should be sent for culture and antigen testing once a drain is
inserted.

Chest X-ray:
• In general, routine CXR is NOT needed in children with mild uncomplicated LRTI

• An infiltrate on CXR supports the diagnosis of pneumonia

• CXR may also indicate a complication: Eg. Pleural effusion, empyema

o **Viral pneumonia: Usually characterized by hyperinflation with BILATERAL INTERSTITIAL infiltrates

and peribronchial cuffing
o **Bacterial pneumonia: Confluent LOBAR consolidation is typically seen with pneumococcal/bacterial
pneumonia

• CXR alone is NOT diagnostic – must consider other clinical features

WBC count AND differential:

May be useful in differentiating viral from bacterial pneumonia
• Viral: WBC may be normal or elevated but usually not over 20, 000/mm3 with LYMPHOCYTE predominance
• Bacterial: Often has elevated WBC between 15 – 40,000 and GRANULOCYTE predominance

NOTE: Large pleural effusion, lobar consolidation and high fever at onset *SUGGESTS* bacterial (not confirms)

Atypical pneumonia: Due to chlamydia pneumonia or mycoplasma pneumoniae

 Wayne Robinson, MBBS Class of 2015 4
• Pattern on x-ray cannot confirm whether viral or bacterial
• **Definitive diagnosis of viral infection requires isolation of the virus (viral cultures) or detection of the viral
genome (DNA or RNA PCR) or antigen (Serology e.g. ELISA) in respiratory tract secretions

• Definitive diagnosis of bacterial infection requires isolation of organism in blood, pleural fluid or lung.
• Sputum culture of little value in dx in young children
• Blood culture positive in only 10% of children with pneumococcal pneumonia

TREATMENT
[Classify: Supportive and Specific]

Supportive: See Oxford section on next page

Specific: [Classify: (Suspected) Bacterial vs. Viral]

A. BACTERIAL PNEUMONIA
Treatment of suspected bacterial pneumonia based on presumptive cause, AGE and CLINICAL APPEARANCE of the
child

1. Mildly ill who do not require hospitalization:

• Amoxicillin recommended (First-line)

o Alternatives include cefuroxime and Augmentin

• ***School-aged children suspected to have mycoplasma or chlamydial -> Macrolide e.g. Azithromycin!!!

• Adolescents -> May consider a fluoroquinolone instead

2. Empiric treatment in a patient who requires hospitalization:

• IV cefotaxime or ceftriaxone is the MAINSTAY of therapy when bacterial pneumonia is suggested

• IF clinical features suggest staph pneumonia (Eg. pneumatoceles, empyema) -> Include vancomycin or
clindamycin in initial therapy

• ***For pneumococcal pneumonia, antibiotics should be continued until patient is afebrile for 72 hours and the
total duration should not be less than 10-14 days (5 if azithromycin used)

B. VIRAL PNEUMONIA suspected

• May withhold antibiotic therapy, esp. in those who are mildly ill and in no resp distress

• Up to 30% with known viral infection may have coexisting bacterial pathogens. Clinical deterioration should
signal the possibility of a bacterial infection and appropriate antibiotics started

KNOW THESE: INDICATIONS FOR ADMISSION:

1. Age < 6 months

2. Sickle cell anaemia with acute chest syndrome
3. Multiple lobe involvement
4. Immunocompromised
5. Toxic appearance
6. Moderate to severe respiratory distress
7. Requirement for supplemental oxygen
8. Dehydration
 Wayne Robinson, MBBS Class of 2015 5
9. Vomiting or inability to tolerate oral fluids or meds
10. No response to oral antibiotic therapy
11. Social factors (Inability of caregiver to administer medication at home or follow up appropriately)

According to Oxford:
Supportive therapies
Consider whether any of the following are needed:
• Antipyretics for fever.
• IV fluids: Consider if dehydrated or not drinking.
• Supplemental oxygen: Administer oxygen via headbox or nasal cannulae so that SpO2 is maintained >92%
• Chest drain: for fluid or pus collections in the chest, as in empyema.

Specific
Under 5 yrs
Streptococcus pneumoniae is the most likely pathogen. The causes of atypical pneumonia are Mycoplasma pneumoniae and Chlamydia trachomatis
• First-line treatment: Amoxicillin
• Alternatives: Co-amoxiclav or cefaclor for typical pneumonia; erythromycin, clarithromycin, or azithromycin for atypical
pneumonia

Over 5 yrs
Mycoplasma pneumoniae is more common in this age group
• First-line treatment: Amoxicillin is effective against the majority of pathogens, but consider macrolide antibiotics if mycoplasma or
chlamydia is suspected
• Alternatives: If Staphylococcus aureus is suspected consider using a macrolide, or a combination of flucloxacillin with amoxicillin

PROGNOSIS

• Radiographic evidence of improvement lags substantially behind clinical improvement

• In general, a repeat CXR is the 1st step in determining the reason for a delay in response to treatment

COMPLICATIONS

Usually the result of direct spread of bacterial infection within the thoracic cavity:
• Pleural effusion
• Empyema
• Pericarditis

OR bacteraemia and haematogenous spread

Rare complications of pneumococcal or HiB infection:

• Meningitis
• Suppurative arthritis
• Osteomyelitis

**S. aureus, S pneumoniae and S pyogenes are the most common causes of parapneumonic effusions and empyema

Treatment of EMPYEMA – Mainstays include antibiotic therapy and drainage with a chest tube
• Urokinase for empyema
• In empyema, as opposed to simple pleural effusion, instillation of urokinase via the chest drain is recommended.

Surgical referral
• If the effusion or empyema fails to resolve over a period of 7 days then a surgical opinion may be sought. Sometimes a chest
CT scan is needed
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Proteinuria Short Notes
Source: Lecture
October 2014

CLASSIFICATIONS

***Emphasis placed on “Non-pathologic (Non-nephrotic) vs. Pathologic (Nephrotic)”

Non-pathologic (Non-nephrotic) Pathologic (Nephrotic)

• Transient/Intermittent • 1o or 2o Nephrotic syndrome
• False +ve • Glomerular nephritides
• Contamination eg. Vaginal secretions • HUS
• Exercise • Failed tubular reabsorption
• Fever • Inflammation of interstitium (interstitial
• Orthostatic proteinuria (postural proteinuria) nephritis)
• UTI • HTN
• CCF • DM

**Associated haematuria = always pathological

**Nephrotic-range proteinuria = always
pathological

Orthostatic proteinuria (postural proteinuria): This is a common cause of referral in older children. There is usually no history of
significance and a normal examination. Investigations reveal a normal UP:UCr ratio in early morning urine with elevated level
in afternoon specimen (may require two 12hr collections). This is regarded as a benign finding and requires no treatment.

One useful classification:

• Pre-glomerular – Increased filtration
• Glomerular – Increased glomerular permeability
• Post-glomerular – Tubular and interstitial

Others: Transient vs. Persistent vs. Intermittent (orthostatic)

IMPORTANT INVESTIGATIONS
Qualitative vs. Semi-quantitative vs. Quantitative

QUALITATIVE

1. Urine dipstick:
• False +ve: Concentrated urine, alkaline urine, contamination with chlorhexidine
• False –ve: Dilute urine
2. 3% Sulphosalicylic acid (SSA)
• False +ve: Conc. Urine, penicillin, cephalosporins
• False –ve: Dilute urine
SEMI-QUANTITATIVE

• Spot urine protein:creatinine ratio

o Just remember 0.2 and 2
o =/< 0.2 = Normal
o 0.2 – 2 = Minimal-mod proteinuria
o > 2 = Nephrotic-range proteinuria
 Wayne Robinson, MBBS Class of 2015
QUANTITATIVE

• 12-24 hour urine collection (for urinary protein excretion)

• This is the gold standard test and requires a 24hr collection of urine to estimate urinary protein excretion.

**Interpretation of results. Nephrotic-range proteinuria =

1. >50 mg/kg/d in 24 hour urine collection
2. > 40 mg/m2/hr in 12-24 hour urine collection
3. First morning protein:creatinine ratio > 2
4. 4+ proteinuria on at least 5 consecutive urines

Look up additional investigations:

• They are in the lecture. Same as those for investigating NEPHRITIC and NEPHROTIC syndrome

**Get a differential diagnosis for proteinuria from a summary source and put it here**
(All the causes of nephritic and nephrotic syndrome and some of the causes of haematuria)
**MAY USE THE TABLE ON PAGE 1 ABOVE!!**
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Rashes and Paediatric Exanthems
Source: Nelson’s Essentials, Toronto 2014, Images from Paediatrics at a Glance
September 2014
NOTE: EXANTHEMS COVERED FIRST. GOOD IMAGES AND OTHER RASHES START AT PAGE 9!!!!

• Exanthem: An eruption on the skin occurring as a symptom of a systemic disease typically with a fever
o An exanthem is a rash that ‘bursts forth or blooms’ towards the end of incubating an infection. The six
classic exanthemata are characteristically:
! Widespread, symmetrically distributed on the body;
! Red, discrete, or confluent macules or papules.
• Enanthem: An eruption on a mucous membrane occurring in the context of an exanthem

TORONTO NOTES (CAN SKIP THIS AND GO STRAIGHT TO PAGE 3)

 Wayne Robinson, MBBS Class of 2015

OXFORD HANDBOOK OF PAEDIATRICS

 Wayne Robinson, MBBS Class of 2015
EXANTHEM 1: MEASLES (RUBEOLA)
CAUSATIVE AGENT: Paramyxovirus (ssRNA)
IP: 8-12 days
INFECTIVITY: 4 days pre-rash - 4 days post-rash (or from 1-2 days before onset of any symptoms).
DROPLETS OR AIRBORNE ROUTE. Highly contagious

ONSET OF RASH: 14 days after infection (Range 7-21)

CLINICAL FEATURES

4 PHASES
[Virus infects the upper respiratory tract and is spread first in a brief low-titre primary viraemia]

1. Incubation: 8-12 days (from EXPOSURE to symptom onset)

2. Prodromal (catarrhal): Lasts 3 days

1. Consists of: Cough, Coryza, Conjunctivitis (The 3 C’s)
2. AND the pathognomonic Koplik spots (gray-white, sand-grain sized dots on the buccal mucosa
opposite the lower molars – lasts only 12-24 hours!!)
3. Conjunctiva – May reveal Stimson’s line – characteristic transverse line of inflammation along eyelid
margin

3. Exanthematous phase (rash): The classic symptoms of cough, coryza and conjunctivitis occur in the secondary
viraemia (5-7 days after first infection). Often also HIGH fever (peaks when rash appears - 40-40.5 or 104-105)

• *Maculopapular rash – begins on head – often above hairline, spreads over most of the body in a
cephalad to caudal pattern over 24 hours (face -> neck -> trunk). NO palm or sole involvement!
• Starts 14 days after exposure
• Lasts 6-8 days
• Areas of rash become confluent/coalesce
• Rash fades in the same pattern
• May be petechial or haemorrhagic (black measles)
• As it fades -> brownish discolouration and desquamation

Other features: Cervical lymphadenitis, mesenteric lymphadenopathy, anorexia, diarrhoea, abdominal

•
pain.
• Otitis media, pneumonia and diarrhoea more common in infants
• Liver involvement in adults
4. Recovery

INVESTIGATIONS
• Clinical: Koplik spots are pathognomonic, but not always seen. (only last 12-24 hours)
• CBC + Differential: Leucopaenia and lymphopaenia are characteristic!!
• LFTs: Raised transaminases.
• PCR of Oral fluid test: measles RNA on oral fluid specimen confirms the diagnosis.
• Confirmation: Serum serology of ACUTE AND CONVALESCENT samples may also be used.
• In encephalitis, CSF: Increased protein, normal glucose, lymphocytic pleocytosis

MANAGEMENT:
• GENERALLY SUPPORTIVE – Adequate hydration and antipyretics
• WHO recommends high-dose Vitamin A supplementation for 2 days in developing countries vitamin A deficiency and
malnutrition lead to a protracted course of illness with severe complications
• Prevention: MMR vaccine at 12–18 mths and preschool booster to all children and at 4-6 years. (MMRV also has varicella)
 Wayne Robinson, MBBS Class of 2015
COMPLICATIONS
• Otitis media = most common complication (10%)
• Interstitial measles pneumonia from secondary bacterial infection – S. pneum, S. aureus or GAS
• Encephalitis (1 in 5000): occurs ~8 days after the onset of illness and starts with headache, lethargy, irritability,
followed by seizures and coma. Mortality is high and there are neurological sequelae in survivors.

• PAST QUESTION!: Subacute Sclerosing Panencephalitis (SSPE, 1/10 000). A rare and fatal neurological
disease with progressive intellectual deterioration, ataxia, and seizures about 7-10 years after measles infection.

• Others: Myocarditis
• Death most frequently from bronchopneumonia or encephalitis

EXANTHEM 2: SCARLET FEVER

GROUP A STREPTOCOCCUS
Scarlet fever is an erythematous rash that may occur with streptococcal pharyngitis. Other patterns of infection caused by
Group A streptococcus (GAS) include toxic shock syndrome and necrotizing fasciitis.

IP: 2 – 5 days
INFECTIVITY: Spread by respiratory secretions and droplets or by self-infection from nasal carriage.
ONSET OF RASH:

CLINICAL FEATURES

• Prodrome: During the incubation period the child may have fever, vomiting, and abdominal pain.

• Exanthematous phase: ‘sandpaper-like’ diffuse rash in the neck and chest area (with perioral pallor)
spreading to the flexor creases (Pastia’s lines).
o The pharynx is erythematous and there may be exudative tonsillitis, uvular oedema, and
o ENANTHEM: Strawberry tongue, palatal petechiae

• Other features: Tender anterior cervical lymphadenopathy.

INVESTIGATIONS

• Throat swab: Culture and growth of the organism in a symptomatic individual (note also asymptomatic carriage
common)

• Serum: Antistreptolysin O (ASO) and anti-DNase B titres – one or both may rise in acute infection.

MANAGEMENT

• Antibiotics: Penicillin V for 10-14 days. This will **prevent the development of rheumatic fever (BUT
not glomerulonephritis) and may reduce the length of illness. Antibiotics should be started within 9 days of
acute illness.

• Isolation: Children should be isolated until 24hr after the start of antibiotics!!!.

Complications

• Peritonsillar abscess, retropharyngeal abscess

• Post-streptococcal glomerulonephritis (PSGN)
• Rheumatic fever
 Wayne Robinson, MBBS Class of 2015
EXANTHEM 3: RUBELLA
Also known as German measles or 3-day measles

CAUSATIVE AGENT: ssRNA virus of the Togavirus family

IP: 14-21 days
INFECTIVITY: From 7 days pre-rash to 7-14 days post-rash (still found in NP secretions in that
period). Most contagious through direct or droplet contact with nasopharyngeal secretions in that period.
• **Infants with congenital rubella syndrome (CRS) may shed the virus in NP secretions for > 12 months after
birth and transmit in this time

ONSET OF RASH:

CLINICAL FEATURES
Has a primary viraemia after invading respiratory epithelium -> replicates in reticuloendothelial system -> secondary
viraemia

NB: Infection in utero results in significant morbidity from congenital rubella syndrome.
Maternal infection in the first trimester results in fetal infection with generalized vasculitis in > 90% of cases

• Rubella is a MILD disease (But congenital rubella syndrome may be severe)

• Transplacental antibody is protective in the first 6 months of life

--

• Prodrome: During IP, the child may have a mild illness with low-grade fever.

• Exanthematous phase: Maculopapular rash starting on the face, then spreading to cover the whole body
• Lasting up to 3 days (Oxford says 5)

• Other characteristic features: Suboccipital, post-auricular/retroauricular and posterior cervical

lymphadenopathy.
• Forchheimer spots: Rose-coloured spots on the soft palate – 20% of patients. May develop before the
rash

• General: +/- Mild pharyngitis, conjunctivitis, anorexia, headache, malaise, low-grade fever, polyarthritis of hands

INVESTIGATIONS

• Routine labs generally do not help with diagnosis

o WBC count: Usually normal or low
o Thrombocytopaenia rare

• Confirm diagnosis with serology: for IgM antibodies (typically positive 5 days after symptom onset)
• OR 4-fold or greater increase in IgG antibodies in ACUTE and CONVALESCENT samples

TREATMENT

• SUPPORTIVE – Adequate hydration and antipyretics

• THERE IS NO SPECIFIC THERAPY FOR RUBELLA

COMPLICATIONS

• Other than with CRS, complications from rubella are very rare
 Wayne Robinson, MBBS Class of 2015

EXANTHEM 4: ENTEROVIRUSES
The majority of infections due to human enteroviruses (coxsackie viruses, echoviruses, and polio viruses) produce non-
specific illness.

EXANTHEM 5: ERYTHEMA INFECTIOSUM

Aka. “Fifth disease”

CAUSATIVE AGENT: Parvovirus B19 (ssDNA)

IP: 4-14 days (rarely up to 21)
INFECTIVITY: Transmitted by resp secretions and droplets and blood product transfusions.

ONSET OF RASH: Sometimes 7-10 days after prodrome onset

GENERAL INFO:
NOTE: The viral affinity for red blood cell progenitor cells makes it an important cause of aplastic crisis in patients with haemolytic anaemias (SCD,
spherocytosis, thalassaemias). Also causes fetal anaemia and hydrops fetalis after primary infection during pregnancy. Cell receptor for
Parvovirus B19 is the erythrocyte P antigen. Virus replicates rapidly in actively dividing erythroid stem cells (erythroblastoid precursors) ->
cell death -> erythroid aplasia and anaemia.
• Usually causes pure red-cell aplasia.
• Erythema infectiosum is common

CLINICAL FEATURES

• Prodrome: Absent/mild. Low-grade fever (or no fever), headache, and coryza 7 days after exposure.
• Exanthematous phase:
• ***The rash appears in 3 stages***:
1. “Slapped cheek” rash of face with circumoral pallor
2. Erythematous, symmetric, Maculopapular, truncal rash appears 1-4 days later then fades as central
clearing takes place giving ""
3. A distinctive lacy, reticulated rash that lasts 2-40 days! (usually 11 days)

o So it overall lasts at least 15 days

o May be pruritic
o Spares palms and soles
o Does NOT desquamate
o Worsen with exercise, heat, stress

• Other features: other patterns of illness include asymptomatic infection, aplastic crisis, +/- myalgias, significant
arthralgias/arthritis, GI upset
o Fetal hydrops (from maternal infection).

INVESTIGATIONS

• Clinical diagnosis from characteristic rash

• CBC: +/- Reticulocytopaenia lasting 7-10 days, mild anaemia, thrombocytopaenia, lymphopaenia,
neutropaenia (According to Nelson’s)
• PCR of erythroid precursors in bone-marrow
• Serology: IgM antibody to parvovirus

MANAGEMENT
• SUPPORTIVE – Hydration and antipyretics
• NO SPECIFIC THERAPY!
• Transfusions may be required for transient aplastic crisis
 Wayne Robinson, MBBS Class of 2015
EXANTHEM 6: ROSEOLA INFANTUM
Aka. “Sixth disease”, “Exanthem subitum”

CAUSATIVE AGENT: Human Herpes Virus 6 (HHV-6) mainly. Also HHV-7 in 10-30% (both dsDNA)
IP: 4-14 days (rarely up to 21)
INFECTIVITY:

ONSET OF RASH:

GENERAL INFO:
Can be detected in saliva of HEALTHY adults which suggests as with other herpesviruses, LIFELONG LATENT INFECTION

By 12 months of age, approximately 60-90% of children have antibodies to HHV-6 and essentially ALL CHILDREN ARE SEROPOSITIVE BY AGE 2-3
YEARS

HHV-6 is a major cause of acute febrile illnesses in infants and may be responsible for 20% of visits to emergency dept in children 6-18 months

CLINICAL FEATURES

• Prodrome: High-spiking fever (> 40oC), with abrupt onset lasting 3-5 days.
*** The fever classically stops once the rash appears!!!!!! ***

• Exanthematous phase: Rose-coloured maculopapular rash erupts with defervescence (abatement of a

fever), beginning on the trunk and spreading peripherally.
o It lasts for 1–3 days. BUT may fade rapidly and is NOT ALWAYS present.

• Other features: Upper respiratory symptoms, nasal congestion, erythematous tympanic membranes, cough.
o Also vomiting, diarrhoea, pharyngeal injection without exudates, cervical lymphadenopathy, and febrile
convulsions prior to rash (5–10% of cases).
o ***Roseola is associated with ~1/3 of febrile seizures (From Nelson’s, so American number)

INVESTIGATIONS

Routine labs DO NOT help diagnosis

Diagnosis is clinical. Typical history.

• CBC: May have neutropaenia

• Serology: 4-fold or greater increase in ACUTE and CONVALESCENT sera
• PCR of CSF for HHV-6 DNA is diagnostic

MANAGEMENT

• SUPPORTIVE – Adequate hydration and antipyretics

• NO SPECIFIC THERAPY (Don’t just jump and put acyclovir. Wrong)
• Gancyclovir considered in immunocompromised

COMPLICATIONS

Most common complication is febrile convulsion

• Roseola is associated with ~1/3 of febrile seizures
• Rare: Few deaths with HHV-6. Attributed to encephalitis or haemophagocytosis syndrome
 Wayne Robinson, MBBS Class of 2015
VARICELLA-ZOSTER VIRUS INFECTION
CHICKENPOX AND HERPES ZOSTER

CAUSATIVE AGENT: Varicella-zoster virus (VZV) aka. HHV-3 (dsDNA – member of herpesvirus family)
IP: 14-16 days (Range: 10-21)
INFECTIVITY: 2 days pre-rash to 7 days after the last vesicle crusts off
Transmission via direct contact with lesions, droplet and air

ONSET OF RASH:

GENERAL INFO:
• Chickenpox is the manifestation of PRIMARY infection
• Infects via conjunctivae or respiratory tract and replicates in nasopharynx and URT.
• Disseminated via a primary viraemia to LNs, liver, spleen and other organs
• Secondary viraemia follows resulting in the cutaneous infection with the typical vesicular rash
• After resolution of chickenpox, the VIRUS PERSISTS AS LATENT INFECTION IN THE DORSAL ROOT GANGLIA
CELLS
• Zoster (Shingles) is the manifestation of reactivated latent infection of VZV
• 75% of zoster occurs after age 45 years. But can occur in childhood (eg. Immunocompromised). Incidence increased in
immunocompromised especially in childhood

CLINICAL FEATURES

• Prodrome: Fever, malaise, anorexia. May precede rash by 1 day.

• Rash: Characteristic rash appears initially as small red papules that rapidly progress to NONUMBILICATED,
OVAL, “TEARDROP” VESICLES on an erythematous base
o STARTS ON HEAD AND TRUNK THEN REST OF BODY
o ***Stages: Macule " Papule " Vesicles " Pustule " Ulcerate " Crust and heal

o New crops appear for 3-4 days usually starting on trunk, followed by head, then face, then less
commonly extremities
o May be a total of 100-500 lesions
o Pruritus is universal and marked
o ***Lesions may be present on mucous membranes! (Enanthem)

• Other: Signs of URTI

• May have generalized lymphadenopathy
• Systemic signs and fever generally abate after 3-4 days

RE: ZOSTER:

• Pre-eruption phase has intense, localized and constant pain and tenderness (acute neuritis) ALONG A
DERMATOME
• + malaise and fever
• After days: Eruption of papules which become vesicles occurs IN THE DERMATOME OR IN TWO
ADJACENT DERMATOMES
• Groups of lesions occur for 1-7 days then crust and heal
• Thoracic and lumbar regions typically involved
• Generally unilateral + regional lymphadenopathy
• Any branch of cranial nerve V may be involved which may also cause corneal and intraoral lesions
• Involvement of CN VII -> facial paralysis and ear canal vesicles (Ramsay Hunt syndrome)
• Ophthalmic zoster may be associated with ipsilateral cerebral angiitis and stroke

INVESTIGATIONS
 Wayne Robinson, MBBS Class of 2015
• Lab testing is usually unnecessary
• PCR is the current diagnostic method of choice
• Serology: Acute and convalescent
• Diagnosis based on the distinctive characteristics of the rash (see stages)

MANAGEMENT

• School exclusion
• Symptomatic therapy:
o Nonaspirin antipyretics
o Cool baths
o Careful hygiene!!

• Routine acyclovir is NOT RECOMMENDED in otherwise healthy children. Useful in preventing severe
complications (Eg. pneumonia, encephalitis) in immunocompromised (Eg. HIV, steroids, oncology). Use
acyclovir or Valacyclovir.

• Zoster: Antiviral treatment. Oral famicyclovir and Valacyclovir recommended > Acyclovir in adults
o BUT Acyclovir recommended in children

COMPLICATIONS

• Secondary bacterial infection may occur with invasive group A streptococcus leading to necrotizing fasciitis or
toxic shock syndrome.
• Other rare complications:
o Purpura fulminans, cerebrovascular stroke, and encephalitis.
• Life-threatening pneumonitis may occur in the young infant and immunosuppressed child.

OTHER COMMON PAEDIATRIC RASHES (PEADIATRICS AT A GLANCE)

Can use 3rd year document or derm handout or another source

NEWBORN, INFANCY AND CONGENITAL SKIN DISORDERS

Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015
INFECTIONS AND INFESTATIONS
Wayne Robinson, MBBS Class of 2015
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015
COMMON INFLAMMATORY DISORDERS
 Wayne Robinson, MBBS Class of 2015

s
 Wayne Robinson, MBBS Class of 2015
Paediatrics
UHWI Class – Resuscitation of the Newborn
Dr. Trotman (Very good class)
November 2014

Have primary apnoea and secondary apnoea

1. Primary apnoea:

2. Secondary apnoea:
• Going on for so long that myocardium is affected ! Bradycardic or arrest

***Treat every baby who is not breathing as being in secondary apnoea***

Most important thing about resuscitation is equipment

---

Latest literature says you can still resuscitate with room air if oxygen not available. Some recommend room air.

EQUIPMENT DESCRIPTION:

1. Self-inflating bag. (Ie. When you squeeze out the air, it reinflates itself)
NOTE:
• Bag used in the neonatal period should never be more than 250 mls. May blow a pneumothorax if more. Do
NOT use paediatric size in neonate!!

2. Reservoir: Self-inflating bags must always be used with a reservoir (tube)

• If you do not have one, every time it reinflates, it will pull in room air and mix it with the oxygen and will
only deliver about 40% oxygen
• The reservoir (tube) stores some oxygen from what is pumped directly into the bag from the actual oxygen
tube. (How: Some oxygen overflows into the attached end of the reservoir tube so when the bag reinflates
itself, it pulls in oxygen first rather than room air)

3. Oxygen tube: Also connects to the bag and supplies it with 100% oxygen

4. Pop-off valve: Pops off when the pressure is too high. Regulates the pressure

5. Manometer: Should always have a manometer! To monitor how much pressure being given

NOTE:
• Pressure should be between 15-20 mmHg of pressure. Should not exceed this

6. Mask:
• Important!!: Mask goes over the nose, around the mouth and just above the chin BUT should NOT go over
eyes. Must say all this in exam (while demonstrating)!

**Ensure you have different size masks, different size ET tubes.

7. ET tubes: Usually use size range from 2-4

• Remember to use uncuffed tubes in neonate. Easy to cause necrosis with cuffed

8. Resuscitaire®: Also need to check the resuscitaire

• Cannot allow babies who are not breathing to become cold. This increases the oxygen demand. Why?
• **Oxygen needed to produce heat/energy via aerobic respiration equation. Decreased oxygen = decreased heat
---
 Wayne Robinson, MBBS Class of 2015

RESUSCITATION
Point: In real life, usually try to have more than one person so some of the steps can run simultaneously

Resuscitation is a CYCLE!
1. Evaluate
2. Make a decision
3. Action
4. Then reevaluate and repeat as necessary

***Each ACTION broken down into 30-second portions

INITIAL RESUSCITATION
***FOR ALL INFANTS FROM BIRTH, EVEN BEFORE ABC:

**Always receive the baby head first in a warm towel. This allows for a smooth movement to the resuscitaire in one
motion, without having to be turning and positioning the baby etc. which wastes time.
• So baby lies on back with scalp toward you and feet away from you

SCENARIO 1: Term baby in clear liquor (not meconium stained etc.)

• Receive and move to baby to the resuscitaire as above
• Dry entire body
o Head in neonate is 1/3 of body. Must dry it properly as due to its surface area it causes heat loss easily
o Drying also acts as stimulation NOTE: 2 accepted ways of stimulation
1. The drying motion
• Throw away this wet towel and replace with a new one 2. Flicking bottom of foot
(Toronto notes says can also rub the lower back
gently instead)
Now resuscitate:
• Position in sniffing position. Can manually do it or just put a warm towel rolled behind shoulder and baby will
automatically go in sniffing position
• Suction quickly. Suction the mouth first. Then nose. Reason:…

• Assess heart rate: Place hand on umbilical cord: Best place to time heart rate is umbilical artery
• Count rate for 6 seconds and multiply by 10

Need to know 3 things!!!

1. Is baby pink?
2. Is baby breathing?
3. Is heart rate over 100?

90% of time this is all that needs to be done. No further interventions required.

Note: The 2 values used for heart rate are 60 and 100.
• **Less than 100 needs oxygen
• **Less than 60 needs external cardiac massage (cardiac compressions)

SCENARIO 2: Clear liquor, but baby apnoeic (not breathing) or heart rate < 100 on initial assessment

***In a baby who is not breathing the most important thing is to get oxygen to the lungs**

• Start same as above with warm and dry + stimulate etc. But intermittent positive pressure ventilation (IPPV) is
required

• Need to place baby in sniffing position.

 Wayne Robinson, MBBS Class of 2015

• Place mask properly on face as described above

• Bag at 40-60/min as this is normal heart rate of neonate AND observe for GENTLE RISE AND FALL OF
CHEST
o So a good way to time: “Pump 2, 3, pump 2, 3, pump 2, 3” – Can say this in exam when demonstrating

• Do this for 30 seconds of adequate bag and mask

• Reevaluate
1. Breathing?
2. Pink enough?
3. Heart rate?

• If these are now ok: No more need for IPPV. STILL NEED OXYGEN, but not IPPV. Still using 100% oxygen.
Then slowly remove the oxygen. Not abruptly.

Consider if after the first 30 seconds heart rate good (>100), but inadequate respiration and baby just starting to pink up.
Decision: Continue IPPV

• Suction again
• Reassess technique and mask seal (readjust mask and reposition airway if necessary)
• Continue 30 more seconds IPPV

• Reassess:
A. If respiration now adequate, can stop IPPV. Still need oxygen.

B. If after second assessment, not improved: By this time heart rate is almost always falling as well. ***If
below 60, need external cardiac massage. If you reach this point, you NEED A SECOND PERSON.
Cannot do both ventilation and external cardiac massage as a single person. See below.

***Note that if after 2 attempts the patient is not fully improved, but heart rate is still over 60, move on to intubation
instead as there is no indication for external cardiac massage. This is unlikely to happen though***

2 ways to find the site for external cardiac massage (Lower 1/3 of sternum)

1. Can use inter-nipple line and go just below it OR

2. Find edge of costal margin and follow it to xiphisternum and go just above it

Both take you to the lower third of sternum

2 ways to perform external cardiac massage

1. Can Use 2-thumb method. Use TIPS of thumbs with other fingers on either side of baby holding baby trunk.
• Disadvantages: Hands block the umbilicus so the person ventilating and assessing heart rate has a harder
time. Person compressing tires more easily. Just generally this method is a more difficult method overall

2. 2-finger method preferred by most. Use index and third finger

• Better access for resuscitation.
--
• Find landmark for compression (lower third of sternum). One you reach the landmark your fingers never
leave the chest!!!

• The depth of compression should be about 1/4-1/3 of the AP height of the chest. (At a rate of 120 events
per minute according to Toronto: Ie. 3 compressions:1 ventilation = 90 compressions/min:30 breaths/min)
 Wayne Robinson, MBBS Class of 2015
• Do 3 compressions to 1 ventilation in neonate

• Note: When you do this must note that the ventilation rate now falls from 40 to 30 based on the above
explanation

• Good pattern for timing is: “And-one-and-two-and-three-and-breathe”. When you say breathe, other
person gives the squeeze. (Can say this in exam when demonstrating)

• Reassess after 30 seconds

• Once the heart rate passes 60, no more need for external cardiac massage. BUT IPPV continues

• If baby did not improve, try it one more time. Remember each thing you do you try twice

Note: Timing of intubation could be 2 points:

1. From the point of deciding that external cardiac massage was necessary
OR
2. If after 2 rounds of the external cardiac massage failed, intubate and CONTINUE COMPRESSIONS

If after intubation, 2 sets of compressions with ET tube in place not working: Need to move to drugs

• Start with adrenaline

o 2 possible routes of administration:
1. Endotracheally (Through ET tube) OR
2. IV through umbilical vein

• Use 1:10 000 solution for neonate: 0.1 to 0.3 ml/kg/dose (Usually don't give more than 3 rounds of adrenaline)

• Usually administer through ET tube

• Usually get an immediate response

• If not working, consider there may be acidosis on board:

***Managing the acidosis***

• Give a bolus of LR or NS. Trying to increase peripheral perfusion. Can bolus twice (10 mL/kg each)

• If no response, may consider sodium bicarbonate. 2 reasons we are hesitant to give this.

o Reason 1: End product is CO2. And baby is already not breathing.

o Reason 2: And in preterm, cerebral autoregulation has not developed so rapid changes in systemic pressure
translate to rapid change in cerebral perfusion pressure and can cause hemorrhage. (Remember water
follows sodium resulting in expanding the intravascular volume)

• Note: Give it over 20 minutes. Never give bolus of bicarb to anybody any age.

---

FOR MECONIUM-STAINED LIQUOR:

For baby born through meconium only the 1st part is different
3 possible scenarios
 Wayne Robinson, MBBS Class of 2015
*CLEAR SCENARIO #1
• If baby crying and good apgars ! meconium gone. Still need to keep in hospital for 48 hours

*CLEAR SCENARIO #2
• Flat baby

- Start resuscitation with bag and mask immediately

- If versed in intubation, may go straight to intubation. So, going to suction baby quickly and intubate. This is
not any thorough suction trying to retrieve meconium

The most important thing here is NOT clearing the meconium, it is resuscitation!! GET OXYGEN IN THE LUNGS

*Now the in between ones

• Not totally limp, not breathing but has a good heart rate

Now this one you DO NOT stimulate him. Do NOT want this one to cry ! Theoretical risk of aspiration. He has not
started to breathe yet

In this one you need to find and suction meconium from beneath the cords and try to clear it. Retrieving
meconium is only done in this case. Then intubate (Even though the most recent studies say this may not help even in
this case as most of the aspiration probably already occurred in utero)

Then everything is the same after

TORONTO NOTES SUMMARY

 Wayne Robinson, MBBS Class of 2015
Paediatrics
Rheumatic Fever Notes
Source: Nelson’s (p. 992 of 2692)
September 2014

INCIDENCE/EPIDEMIOLOGY

• Incidence of both initial attacks and recurrence of acute rheumatic fever peaks in children **5-15 years**(the
age of greatest risk for Group A Streptococcus (GAS) pharyngitis)

• NOTE: Worldwide, rheumatic heart disease remains the MOST COMMON FORM OF ACQUIRED HEART
DISEASE IN ALL AGE GROUPS accounting for as much as 50% of all cardiovascular disease and as much as
50% of all cardiac admissions in many developing countries.
o MUST KNOW THIS TOPIC WELL. VERY COMMON AND IMPORTANT IN OUR SETTING.

• Historically, acute rheumatic fever has been associated with poverty, particularly in urban areas.
o Crowding is the most significant factor which contributes to the spread of GAS infections and the
incidence of acute rheumatic fever

• *In addition to the specific characteristics of the GAS organism, the risk of a person developing acute rheumatic
fever is also dependent on various host factors
o Association with specific HLA markers and a specific B-cell alloantigen (D8/17)

AETIOLOGY

Considerable evidence to support the link between Group A streptococcus (GAS) upper pharyngitis tract infections and
acute rheumatic fever and acute rheumatic heart disease

• ***2/3 of patients with an acute episode of rheumatic fever have a history of an upper respiratory tract
infection several weeks before. [So 1/3 do not have this history]

• Their antibody titres on serology are considerably higher than those patients with GAS infections without acute
rheumatic fever

Certain serotypes (M types 1, 3, 5, 6, 18, 24) are more frequently isolated from patients with acute rheumatic fever than
are other serotypes.

PATHOGENESIS

Several theories have been proposed for acute RF and acute RHD. Only 2 are seriously considered
1. Cytotoxicity theory
2. Immunologic theory

• Cytotoxicity theory: GAS produces several enzymes that are cytotoxic for mammalian cardiac cells including
streptolysin O. Problem with this theory is that it doesn’t explain the latent period between pharyngitis and onset
of acute RF

• Immunologic theory: Suggested by the latent period between GAS infection and acute RF. Also, the
immunologic cross reactivity between GAS components and mammalian tissues also supports this.

o Common antigenic determinants shared between GAS and specific mammalian tissues (eg. heart,
brain, joints). Eg. Certain M proteins of GAS with human tropomyosin and myosin.
 Wayne Robinson, MBBS Class of 2015
CLINICAL FEATURES
No clinical or lab finding is pathognomonic for acute rheumatic fever.

JONES’ CRITERIA

T. Duckett Jones in 1944 proposed guidelines - Jones’ criteria

• Revised in 1992 by AHA

***Intended only for the diagnosis of the INITIAL ATTACK. NOT for recurrences!

5 major and 4 minor criteria AND AN ABSOLUTE REQUIREMENT FOR EVIDENCE (MICROBIOLOGIC OR
SEROLOGIC) OF RECENT GAS INFECTION

Must diagnose acute RF with:

• 2 major criteria OR 1 major + 2 minor criteria
• AND EVIDENCE (MICROBIOLOGIC OR SEROLOGIC) OF RECENT GAS INFECTION

MAJOR CRITERIA (5) MINOR CRITERIA (4)

Carditis 2 clinical:
Migratory polyarthritis • Fever
Sydenham chorea • Arthralgia (in the absence of polyarthritis)
Erythema marginatum
Subcutaneous nodules 2 Laboratory:
• Elevated acute phase reactants: ESR or CRP
• ECG: Prolonged PR interval (1st degree heart block)

MAJOR MANIFESTATIONS

1. Migratory polyarthritis: In about 75% of patients with acute rheumatic fever

• Frequently the earliest manifestation of acute rheumatic fever
• Typically involves LARGER joints (esp. elbows, wrists, knees, ankles)
• Joints generally HOT, RED, SWOLLEN, TENDER (Ie. All the features of acute inflammation - calor, rubor,
tumor, dolor)
• Characteristic feature: Migratory
• Characteristic feature: Dramatic response to even small doses of salicylates
• Typically nondeforming
• Monoarticular arthritis is unusual

2. Carditis: occurs in about 50-60% of all cases of rheumatic fever

NOTE: Carditis and resultant chronic rheumatic heart disease are the most serious manifestations of acute
rheumatic fever and account for essentially all of the associated morbidity and mortality!!!!

***Rheumatic carditis characterized by PANCARDITIS – active inflammation of endocardium, myocardium and

pericardium.
• BUT! Endocarditis (valvulitis) is a UNIVERSAL FINDING IN RHEUMATIC CARDITIS
• Pericarditis or myocarditis is variable
• (So always have endocarditis if carditis is present, but may or may not have myo- or pericarditis)

Most cases consist of either isolated mitral valve disease OR combined aortic and mitral valve disease
• Isolated aortic or right-sided valvular involvement is uncommon
 Wayne Robinson, MBBS Class of 2015

• Valvular insufficiency is characteristic of both the acute and convalescent stages of acute RF!!
• Valvular stenosis usually appears years later. BUT in developing countries, mitral stenosis and aortic stenosis
may develop earlier

o ***NOTE: Rheumatic carditis usually presents as tachycardia + cardiac murmurs

o ***NOTE: Moderate to severe -> cardiomegaly, CCF with hepatomegaly and pulmonary oedema

Clinically, rheumatic carditis is almost always associated with a murmur of valvulitis.

Echo findings: Pericardial effusion, decreased contractility, mitral and or aortic regurgitation. Subclinical valvular
regurgitation detected on echo is not currently accepted as either a major or minor Jones criterion by the AHA

3. Sydenham Chorea: Occurs in about 10-15% of patients

o Incoordination, poor school performance, uncontrollable movements, facial grimacing disappearing with sleep are
characteristic
o See the clinical maneuvers to elicit features of chorea

4. Erythema marginatum: Rare (< 3%) of patients

o Consists of erythematous, macular lesions with pale centers. Not pruritic
o Primarily on trunk and extremities but NOT on the face

5. Subcutaneous nodules: Rare (< 1%) of patients

o On extensor surfaces of tendons near bony prominences

MINOR MANIFESTATIONS
o See table
RECENT GAS INFECTION
IS AN ABSOLUTE REQUIREMENT FOR DIAGNOSIS OF ACUTE RF

Acute RF typically develops 2-4 weeks after an acute episode of GAS pharyngitis when clinical findings
are no longer present

1/3 of patients with acute RF have no history of an antecedent pharyngitis

95-100% have an elevation among 3 antibodies: Antistreptolysin O, anti-DNase B, antihyaluronidase. Not

necessarily all will be elevated. Most commonly antistreptolysin O used (detects only 80-85% used alone)

Except for chorea, clinical findings of acute RF generally coincide with peak antistreptococcal antibody responses

NB: Do not make diagnosis based on antibody titres alone if Jones criteria not fulfilled

DIFFERENTIAL DIAGNOSIS
***Depends on which feature of the RF is predominant***:

Arthritis
• Must consider a collagen vascular disease. Rheumatoid arthritis in particular
o RA= Usually younger age, usually has spiking fevers/lymphadenopathy/splenomegaly, much less dramatic
response to salicylates

o SLE = use antinuclear antibodies (ANA) to distinguish

• Other causes: Gonococcal arthritis, malignancies, serum sickness, Lyme disease, sickle cell, reactive arthritis
related to GI infections e.g. shigella, salmonella, Yersinia
 Wayne Robinson, MBBS Class of 2015

When carditis is the sole major manifestation:

• Viral myocarditis
• Viral pericarditis
• Kawasaki disease
• Infective endocarditis (may also have joint manifestations) – can usu distinguish IE from acute RF by blood
cultures and presence of associated findings (Eg. haematuria, splenomegaly, splinter haemorrhages)

When chorea is the sole manifestation:

• Huntington chorea
• Wilson disease
• SLE
• Other encephalitides

MANAGEMENT
ALL PATIENTS -> Bed rest and monitoring for carditis
• Allowed to ambulate when signs of acute inflammation subside
• BUT patients with carditis require longer periods of bed rest

Antibiotic therapy:
• 10 days of oral penicillin OR erythromycin
OR
• Single IM injection of Benzathine penicillin

**After this initial course of antibiotic therapy, the patient should be started on long-term antibiotic prophylaxis:
• Benzathine penicillin G EVERY 28 DAYS

Anti-inflammatory therapy

• Anti-inflammatory agents (e.g. salicylates, corticosteroids) should be WITHHELD IF ARTHRALGIA OR

ATYPICAL ARTHRITIS IS THE ONLY CLINICAL MANIFESTATION OF SUSPECTED ACUTE
RHEUMATIC FEVER
• **Reason: Premature treatment with one of these agents may interfere with the development of the characteristic
migratory polyarthritis and thus obscure the diagnosis of acute rheumatic fever

• Acetaminophen may be used to control pain while patient being observed

NOTE VERY WELL:

o Patients with typical migratory polyarthritis and those with carditis WITHOUT cardiomegaly or CHF -> PO
salicylates (aspirin) for ~ 4 weeks

o Patients with carditis WITH cardiomegaly or CCF -> Corticosteroids (prednisone) ~ 3 wks then taper and
switch to aspirin for ~ 6 weeks

Supportive therapies for mod – severe carditis: Digoxin, fluid and salt restriction, diuretics, oxygen

Sydenham chorea: anti-inflammatory agents usually not indicated

• Sedatives may be useful: Drug of choice = Phenobarbital
• Others: Haloperidol or chlorpromazine

COMPLICATIONS
• Long-term sequelae of rheumatic fever are usually limited to the heart
 Wayne Robinson, MBBS Class of 2015
PREVENTION

Prevention of both initial and recurrent episodes of acute rheumatic fever depends on controlling GAS infections of the
upper respiratory tract.

Prevention of initial attacks (primary prevention) depends on identification and eradication of the GAS that produces
episodes of acute pharyngitis.

Individuals who have already suffered an attack of acute rheumatic fever are particularly susceptible to recurrences of
rheumatic fever with any subsequent GAS upper respiratory tract infection, whether or not they are symptomatic.
Therefore, these patients should receive continuous antibiotic prophylaxis to prevent recurrences (secondary prevention).

PRIMARY PREVENTION

Appropriate antibiotic therapy instituted before the 9th day of symptoms of acute GAS pharyngitis is highly effective in
preventing 1st attacks of acute rheumatic fever from that episode.
• However, about 30% of patients with acute rheumatic fever do not recall a preceding episode of pharyngitis.

SECONDARY PREVENTION

Preventing acute GAS pharyngitis in patients at substantial risk of recurrent acute rheumatic fever.

Requires continuous antibiotic prophylaxis ! Should begin as soon as the diagnosis of acute rheumatic fever has been
made and immediately after a full course of antibiotic therapy has been completed.

• Because patients who have had carditis with their initial episode of acute rheumatic fever are at a relatively high
risk for having carditis with recurrences and for sustaining additional cardiac damage, they should receive long-
term antibiotic prophylaxis well into adulthood and perhaps for life.

• Patients who did not have carditis with their initial episode of acute rheumatic fever have a relatively low risk for
carditis with recurrences. Antibiotic prophylaxis should continue in these patients until the patient reaches 21 yr
of age or until 5 yr have elapsed since the last rheumatic fever attack, whichever is longer.

The decision to discontinue prophylactic antibiotics should be made only after careful consideration of potential risks and
benefits and of epidemiologic factors such as the risk for exposure to GAS infections.

The regimen of choice for secondary prevention is a single IM injection of benzathine penicillin G (Penadur®) every 4
wk (1 every 28 days!).

• In certain high-risk patients, and in certain areas of the world where the incidence of rheumatic fever is particularly high, use
of benzathine penicillin G every 3 wk may be necessary because levels of penicillin may decrease to marginally effective
amounts after 3 wk.

**In compliant patients, continuous oral antimicrobial prophylaxis can be used:

• Penicillin V given twice daily OR sulfadiazine given once daily are equally effective when used in such
patients.
• If allergic to both penicillin and sulfonamides, a macrolide (erythromycin or clarithromycin) or azalide
(azithromycin) may be used.
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015 1
Paediatrics
Seizures Notes
Sources: Nelson’s, Lecture from OurVLE
September 2014

DEFINITIONS

Seizure: Disturbance in motor, sensation or consciousness caused by paroxysmal discharge of electrical activity in the
cerebral cortex

Epilepsy: Tendency for having recurrent, unprovoked seizures

TYPES

1. Partial seizures
a. Simple partial: No impaired consciousness
b. Complex partial: Consciousness affected

• One can lead to the other (mostly simple to complex)

• Or either can progress to secondarily generalized (Most often tonic-clonic. Also tonic, clonic, atonic)

2. Generalized
a. Primary generalized
b. Secondarily generalized

Status epilepticus (According to lecture): Tonic-clonic status epilepticus defined as a continuous convulsion lasting
30 minutes or more, or repeated convulsions without complete recovery of consciousness between attacks

Re: Generalized Seizures:

• May be convulsive or non-convulsive

Generalized MOTOR seizures can be:

• Tonic: Sustained contraction

• Clonic: Rhythmic contraction
• Tonic-Clonic (Most common)
• Absence:
o Usually < 10-20 seconds
o Have no aura and no post-ictal phase. Automatisms common
o Typical absences associated with 3 Hz spike-and-slow wave discharges on EEG
• Myoclonic: Rapid, contraction. Usually not rhythmic
• Atonic

May be difficult to differentiate among the above when family only reports a fall. In such cases, may describe the seizure
as a “drop attack”

Tonic, clonic, myoclonic or atonic can be focal with secondary generalization or primary generalized

Other important definitions:

• Aura: SENSORY experiences reported by the patient, not observed externally.
 Wayne Robinson, MBBS Class of 2015 2
o May be visual (eg. flashing lights, colours), somatosensory (eg. tingling), olfactory, auditory,
vestibular, experiential (déjà vu, deja vecu) depending on site of origin of seizure

• Automatism: Automatic, semipurposeful movements of the mouth (“oral” eg. chewing) or extremities
(“manual” eg. fixing sheets, “leg” eg. walking)

Epilepsy is a symptom not a..

APPROACH TO UNPROVOKED SEIZURES

Acute setting:
• Evaluate vital signs and resp. + cardiac functions
• Measures to normalize and stabilize the above

History (Important):
• Details of seizure manifestation – esp. those at initial onset – may suggest type and brain localization
• Specifically question for all the symptoms/signs: (Duration, jerking of limbs, eye rolling, frothing at mouth,
tongue biting, urinary and stool incontinence, cyanosis, LOSS OF CONSCIOUSNESS)
• Possible causes: Fever (Only if 6 months – 5 years)? Head injury? Fall? Hypoglycaemic agent ingestion? Lead
exposure (paint, eating dirt)? Ackee ingestion? Medications? Family history?
• Ask about patterns – e.g. clustering
• Ask about precipitating conditions – e.g. Sleep, sleep deprivation, TV, visual patterns, mental activity, stress
• Exacerbating conditions (e.g. menstrual cycle, medications)
• Frequency
• Duration
• Time of occurrence and other characteristics
• Commonly overlooked/underreported: Absence, complex partial, myoclonic
• Personality change
• Cognitive regression
• Developmental history
• Medication history
• Pre/perinatal distress
• Family history of epilepsy

Guidelines for evaluation/treatment of “FIRST, unprovoked, nonfebrile seizures”:

• Careful history and examination
• Brain imaging with CT or MRI (note that in first FEBRILE seizures, these are NOT indicated)
• Emergency head CT often useful in acute management
• EEG
• Lab studies are recommended. Choices depend on the clinical history and top differentials
• Spinal tap/LP if suspected meningitis or encephalitis
• Many others depending on suspected cause

INCIDENCE
-
AETIOLOGY
-
BASIC PATHOPHYS
-
 Wayne Robinson, MBBS Class of 2015 3
MORE ON TYPES OF SEIZURES

PARTIAL SEIZURES (AND EPILEPSY SYNDROMES ASSOCIATED WITH THEM)

Simple Partial seizures:

Can take the form of:

1. SENSORY SEIZURES (AURAS) or
2. Brief MOTOR seizures – most common (incl focal tonic, clonic or atonic)
3. Autonomic
4. Psychological

Often have a Jacksonian march or postictal (Todd’s) paralysis. (Can look these up)

Complex Partial seizures:

• Usually last 1-2 minutes

• Often preceded by an aura (see auras on 1st page)
• Children < 7 less likely to report auras. Parents may report unusual preictal behaviours
• After aura: May have decreased responsiveness, blank staring, automatisms
• Patient does not recall the epileptic event
• Patient may have postictal automatisms, sleepiness and/or focal deficits e.g. weakness

Secondary Generalized seizures:

• Can start after obvious simple/complex partial seizure with subsequent clinical generalization
• OR can start with generalized clinical phenomena (due to rapid spread from partial to generalized)

• Often generalized tonic-clonic activity

• Most last 1-2 minutes
• Tongue biting, urinary and stool incontinence, vomiting with aspiration risk and cyanosis common
• Rare complications incl fractures of vertebrae or humerus
• EEG in patients with partial seizures usually shows focal spikes or sharp waves in the lobe it originates in
• ~15% have normal EEGs
• Brain imaging is CRITICAL in focal seizures
• MRI preferred to CT in these cases

SOME BENIGN EPILEPSY SYNDROMES WITH PARTIAL SEIZURES:

***Most common:

1. Important: **Benign Childhood Epilepsy with Centrotemporal spikes (BECTS) (aka. Benign Rolandic
Epilepsy of Childhood)
• Starts in childhood (peak 5-10 years) and **outgrown in adolescence (spontaneous remission)
• **Precipitated by sleep!! May **wake child at night
• No neurological or intellectual deficit
• Autosomal dominant/Multifactorial
• EEG: Broad-based centrotemporal spikes
• MRI is normal
• Drug therapy indicated in 30%. Respond well to carbamazepine

Others
2. Benign Epilepsy with Occipital Spikes
 Wayne Robinson, MBBS Class of 2015 4
3. Benign Infantile Familial Convulsion Syndromes

SOME SEVERE EPILEPSY SYNDROMES WITH PARTIAL SEIZURES:

Epilepsy secondary to focal brain lesions has a higher chance of being severe and refractory to therapy than idiopathic
epilepsy

Often due to severe metabolic problems, hypoxic-ischaemic injury, congenital malformations

Migrating Partial Epilepsy of Infancy:

• Multifocal, severe, partial seizures
• Mental regression and cerebral atrophy

Others:
Temporal Lobe Epilepsy (usually caused by mesial/medial temporal sclerosis) – often preceded by febrile seizures

GENERALIZED SEIZURES (AND EPILEPSY SYNDROMES ASSOCIATED WITH THEM)

ABSENCE SEIZURES

• Usually start at 5-8 years

• Girls > Boys
• Often missed/overlooked by parents due to how short they are even though they may occur up to hundreds of
times per day
• **DO NOT have an aura, unlike complex partial
• **DO NOT have a postictal period – patient immediately resumes what he/she was doing before
• May have simple automatisms: Eg. lip-smacking, picking at clothes
• Last a few seconds (10-20 s)
• Hyperventilation for 3-5 minutes can precipitate them
• 3 Hz spike-and-slow wave discharge
• First line drugs: Ethosuximide, Valproic acid, lamotrigine
• Second line: Clonazepam, clobazam, acetazolamide

GENERALIZED MOTOR SEIZURES

• MOST COMMON = TONIC-CLONIC – Can either be primarily or secondarily generalized

• If primary, then usually seizure starts with loss of consciousness +/- sudden cry, eye-rolling, generalized tonic
contraction with falling, apnoea and cyanosis
• Tonic phase followed by a clonic phase
• Lasts 1-2 mins
• Incontinence and post-ictal period often follow
• Post-ictal period usually lasts ~ 30 minutes to hours – sleepiness, ataxia, hypo/hyper-reflexia, headaches

• ***First-aid measures incl positioning patient on side, clearing mouth if open, loosen tight clothes, +/-
insertion of airway

BENIGN GENERALIZED EPILEPSY SYNDROMES

1. Petit-mal epilepsy – most outgrow before adulthood

2. Benign Myoclonic Epilepsy of Infancy
3. Febrile Seizures Plus Syndrome – febrile seizures and other seizures in multiple family members
4. Juvenile Myoclonic Epilepsy (Janz syndrome) – Most common generalized epilepsy in young adults
 Wayne Robinson, MBBS Class of 2015 5
o Starts in early adolescence with any of:
! Myoclonic jerks in the morning
! Generalized tonic-clonic seizure on waking
! Juvenile absences

SEVERE GENERALIZED EPILEPSY SYNDROMES

**These are associated with intractable seizures and developmental delay**

• Early Myoclonic Infantile Encephalopathy (EMIE) – starts during first 2 months of life – myoclonic seizures
• Early Epileptic Infantile Encephalopathy (EEIE) – Ohtahara syndrome – tonic seizures
• Severe Myoclonic Epilepsy of Infancy (Dravet syndrome)

• **West syndrome – (Infantile Spasms) – MUST KNOW:

o Triad of:
1. Myoclonic spasms in clusters
2. Psychomotor developmental arrest and regression
3. Hypsarrhythmia

o **Begins between 4-6 months of life. Insidious onset

o Commonest of the epileptic encephalopathies
o Symmetrical, bilateral, brief and sudden contraction of axial muscle groups
o Flexor (“Salaam attacks”), extensor and mixed
o Occur in clusters on awakening or falling asleep
o Followed by cry and brief period of attenuated responses
o Aetiology: Symptomatic vs. Cryptogenic/Idiopathic (9-15%)
! Symptomatic aetiologies may be prenatal, perinatal or postnatal
o MRI finding: Lissencephaly (Wiki: Literally means smooth brain)
o MANAGEMENT:
1. ACTH or Prednisone (According to Medscape and lecture)
2. Nitrazepam
3. Valproic acid
4. Vigabatrin
o PROGNOSIS:
• Spasms and hypsarrhythmia disappear before 3 years
• 55-60% develop other types of seizures
• Prognosis re: normal development is poor – 70-78% are mentally retarded. Cryptogenic group
does better

• Lennox-Gestaut syndrome – Triad of 1) Multiple generalized seizure types incl absence, and myoclonic,
atonic and tonic, 2) Developmental delay + mental retardation 3) Diffuse slow spike-and-waves on EEG
o Onset 2-8 years
o Boys > Girls
o Low incidence
o Prevalence: 5% of all epileptic patients
o Aetiology: Symptomatic (70% - 1/3 evolve from infantile spasms) vs. Cryptogenic (30%)
o Management: Valproic acid, felbamate, nitrazepam, lamotrigine, topiramate, vigabatrin, ketogenic diet,
immunoglobulin, corpus callostomy, vagus nerve stimulation

TREATMENT OF SEIZURES AND EPILEPSY

**EDIT NOTES FROM MY NOTEBOOK IN HERE**

After a first seizure, IF the risk of recurrence is low and pt has normal development, EEG and MRI, then
treatment is NOT STARTED
If any of these abnormal, treatment often started
 Wayne Robinson, MBBS Class of 2015 6

Mechanism of action of antiepileptic drugs (AEDs). Either:

• Reduce excitability by interfering with sodium and/or calcium ion channels
• Reducing glutamate induced excitatory function or
• Enhancing GABAergic inhibition
• (Many meds combine some of the above)

In general, drug of 1st choice in

• Partial or secondary generalized seizures and epilepsies: are oxcarbazepine and carbamazepine (Others
valproate, phenobaribital)
• For absence: Ethosuximide (others incl valproate and lamotrigine)
• Juvenile Myoclonic Epilepsy: Valproate and Lamotrigine
• Lennox-Gestaut: Valproate, topiramate
• Dravet syndrome: Valproate and benzodiazepine
• Valproate effective for generalized and unclassified seizures/idiopathic epilepsy

Control with 1 drug (monotherapy) should be the goal

How long to treat?:

Discontinuation usually indicated when children are free of seizures for at least 2 years

Factors associated with a low recurrence rate following discontinuation:

• Onset of seizures at an early age
• Prompt seizure control
• Seizure type: Tonic-clonic, absence
• EEG normal or normalizes

Indications for surgery

• If patient has failed 3 drugs, chance of achieving seizure freedom using AEDs is < 10%
• Usually considered if 3 failed AEDs in 2 years of onset of epilepsy

• Focal resection of the epileptogenic zone is most common

• Hemispherectomy for diffuse hemispheric lesions

GET SIDE EFFECTS OF THE COMMON DRUGS!!

 Wayne Robinson, MBBS Class of 2015
Paediatrics
Sickle Cell Disease – Notes
Sources: Lecture on SCD, Nelsons P. 1735 of 2682
September 2014

Hb S is the result of a single base-pair change, thymine for adenine at the 6th codon of the B globin gene (on
chromosome 11). Result is valine (amino acid) replaces glutamic acid at position 6 of the beta subunit of the
haemoglobin (protein). Homozygous Hb S occurs when both B globin genes have the sickle mutation. Remember a codon
is 3 nucleotides and it codes for a specific amino acid. So if one base changes in the codon, it will cause a different amino acid to be
added to the protein being made, in this case the beta chain of haemoglobin

• Sickled cells survive < 20 days (compared to normal RBCs surviving 120 days)
• Sickled cells rigid/non deformable (normal RBCs flexible/deformable)

• 10% of Jamaican population has sickle cell trait

• Some form of SCD affects 1:150 births in Jamaica

• SS most common

***NOTE: From May Pen Ward Rounds: Definition of sickle cell disease: Combination of haemoglobin S and
another abnormal haemoglobin

Inheritance
• Autosomal recessive
• So, ***if both parents have the trait, 1 in 4 chance of having a child with SCD for every pregnancy

Genotype Incidence Genotype

prevalence (%)
SS 1:300 50
Sickle-Hb C 1:500 30
+
SB thalassemia 1:3000 8
0
SB thalassemia 1:7000 2
Others – SD Punjab
SO Arab

Diagnosis
1. HB electrophoresis - Most common

Others
2. High Pressure Liquid Chromatography (HPLC)
3. Iso-electric focusing
4. Sickle solubility test - Cannot be used for diagnosis - Cannot differentiate trait from disease OR tell the
genotype.
• NOTE WELL: ALSO CANNOT be used to reassure anyone that they will not have a child with sickle cell
disease. ***REASON: Because it doesn't detect the C gene or thalassemia! Therefore if one parent has, for
example Hb AC, it would report him as normal, while reporting his Hb AS partner as having an S gene. By
these results, it would falsely suggest that any offspring could only possibly inherit the trait. It would have
completely missed the possibility of an offspring with Hb SC, which is sickle cell disease, not the trait.

HB electrophoresis
• Hb separation at varying pH
• Hb A2, F, A, S, C
• Screening: Use Agar gel - pH 6.4
 Wayne Robinson, MBBS Class of 2015
• Confirmatory: Use CAM (Cellulose Acetate Membrane) - pH 8.4

NOTE: HB SF is sickle cell disease until proven otherwise!! Must be treated as such

--
SCD is a haemoglobinopathy with:

• Increased RBC fragility ! Haemolytic anaemia

o Anaemia
o Jaundice
o Gallbladder disease
• Vasculopathy ! Vaso-occlusion
o Pain
o Acute Chest Syndrome
o Stroke

***NOTE: Symptoms unlikely before age 4 months. REASON: Protection due to presence of fetal haemoglobin
until about age 4-6 months

• NOTE: Dactylitis is the most frequent initial complication!!

• NOTE: Peak incidence of death from SCD is first three years!!!
• NOTE: Acute splenic sequestration and sepsis - highest mortality!!!

---

Sickle Cell is a highly variable disease:

Variability between genotypes:

• Increasing severity:
o SS > Sβ0 > SC > Sβ+
Variability within genotype:
(Spectrum of benign to severe)

• Benign: Incidental finding in 60-70 year old

• Severe: Characterized by:
o Increased susceptibility to infection
o Tendency to acute splenic sequestration
o Vaso-occlusive crises
o Death in early childhood
---

COMPREHENSIVE CARE IN SCD

UNDER 5 YEARS:
• Health visits every 3 months, childhood immunizations
• Train caregivers on splenic palpation
• Pneumococcal prophylaxis

PNEUMOCOCCAL PROPHYLAXIS
Recommended prophylaxis: Prophylactic therapy with penicillin has been advocated in recognition of the fact that a
majority of the causative organisms are sensitive to penicillin.
 Wayne Robinson, MBBS Class of 2015
*** Penicillin prophylaxis:
• Age: **4 months to 4 years
• Options: IM vs. PO (Either, not both)

a. IM: Penadur® -> Benzathine Penicillin G -> Given every 28 days NOT every month

b. ORAL: Penicillin B. Given every day, twice a day (PO bd)

o Morning and evening
o Offered to the severe genotypes

• ***NOTE: If allergic to penicillin give erythromycin

Other methods of prophylaxis:

Pneumococcal vaccinations:
2 types of pneumococcal vaccine:

1. Pneumovax (PPV23) - Pneumococcal Polysaccharide Vaccine 23

• T-cell mediated response --> Doesn't confer memory!!
• Usually given at 4 and repeated every 7 years

2. PCV – Pneumococcal Conjugate Vaccine (Prevnar®)

• B-cell mediated response --> Offers memory --> So this can be given early
• Prevnar 13® is a 13 valent vaccine

NB: Pneumococcal vaccine is provided for SCD, HIV and Down’s by MOH. But not provided routinely. Cost about 8000

Online source: Immunization with broadly polyvalent vaccines against Streptococcus pneumoniae, Haemophilus
influenzae type b, and Neisseria meningitidis may ultimately represent the most effective way to reduce the incidence of
catastrophic infections.
---

Eventually health visits every 6 months

Screen for complications:

• Transcranial Doppler (TCD) – For risk of stroke

• Proliferative Sickle Retinopathy (PSR)
• Renal disease

Other methods of disease monitoring:

• Steady state, Hb, splenic size, O2 sat
• Leg ulcers

---

COMPLICATIONS AND THEIR MANAGEMENT

COMPLICATIONS
• Chronic anaemia
• Vaso-occlusive crises: Includes painful crisis, Dactylitis (Hand-foot syndrome)
• Haemolytic crisis
• Aplastic crisis
• Acute splenic sequestration (crisis)
 Wayne Robinson, MBBS Class of 2015
• Acute chest syndrome
• Eyes: Sickle retinopathy, vitreous haemorrhages
• Autosplenectomy - Because of its narrow vessels and function in clearing defective red blood cells, the spleen is frequently
affected. It is usually infarcted before the end of childhood. This autosplenectomy increases the risk of infection from
encapsulated organisms; preventive antibiotics and vaccinations are recommended for those with such asplenia.
• Infection e.g. osteomyelitis
• Sepsis (Mainly encapsulated organisms) e.g. Pneumococcal, HiB, salmonella
• Abdominal: Hepatic sequestration
• Abdominal: Cholelithiasis and cholecystitis
• Renal: Acute papillary necrosis
• GU: Priapism
• Avascular necrosis
• Stroke
• Leg ulcers
• Delayed puberty & reduced growth
• During pregnancy: IUGR, spontaneous abortion

APLASTIC CRISIS
• Usually Pure red cell aplasia --> Parvovirus B19 (Also assc. with ASS, ACS, stroke, glomerulonephritis)
o May also have thrombocytopaenia, lymphopaenia and neutropaenia (i.e. Pancytopaenia)

• Triggered by parvovirus B19, which directly affects erythropoiesis (production of red blood cells). Parvovirus infection
nearly completely prevents red blood cell production for two to three days. In normal individuals, this is of little
consequence, but the shortened red cell life of sickle-cell patients results in an abrupt, life-threatening situation.

Diagnosis: Very low reticulocyte count. May be 0. The reticulocytopaenia lasts 7-10 days

• Usually can only get it once

• Must ask if anyone else in family has SCD. If another family member has SCD, ask them to come in

Management: SUPPORTIVE/Symptomatic management. May require transfusion if Hb very low. It is self-limiting

INFECTIONS
Usually encapsulated organisms – REASON: Due to absence of a functional spleen - functional hyposplenia
or asplenia
• Patients lose the ability to get rid of organisms by splenic macrophages. Normally, C3b or IgG would opsonize these
organisms and send them to the spleen for destruction, but because the spleen is nonfunctional, they are unable to deal with
organisms.

1. Pneumococcus - See above

2. H. influenzae – Hib vaccine
3. Salmonella – Hygiene: Esp. hand washing after handling food esp. chicken and eggs. Must thoroughly cook eggs
as well. No licking cake batter. No runny eggs no sunny side up eggs. Must cook thoroughly. Can also get
salmonella from pet lizards

4. E. coli – UTI

NOTE: Online Source: One of the most high yield mnemonics in microbiology is the one for encapsulated organisms:
"Some Nasty Killers Have Some Capsule Protection"
1. Streptococcus pneumoniae
2. Neisseria meningitides
3. Klebsiella pneumoniae
 Wayne Robinson, MBBS Class of 2015
4. Haemophilus influenzae
5. Salmonella typhi
6. Cryptococcus neoformans
7. Pseudomonas aeruginosa

--
IMMUNIZATIONS

Additional immunizations for sicklers:

• PCV Schedule (Prevnar 13®): 2, 4 and 6 mo OR 6 wks, 3 mo, and 4 mo, then 15-18 months

PATHOPHYSIOLOGY OF PAIN IN SCD

Pain is the clinical hallmark of SCD
• Vaso-occlusion leads to hypoxia, ischemia, and eventually tissue damage followed by chronic vascular inflammation,
underlying many features of sickle cell pain
• Inflammatory mediators released from injured cells, macrophages, mast cells, and platelets activate nociceptors on the
peripheral afferent, thus initiating the nociceptive insult
• It is the combination of hypoxia/reperfusion injury, ischemic tissue damage, and inflammation that makes the pain of
SCD unique

Types of pain

1. Acute pain - #1 cause of hospital admission

2. Chronic pain - (Eg. AVN, leg ulcers)
3. Neuropathic pain - Assc with leg ulcers. Standard painkiller will not help

ACUTE PAIN CHRONIC PAIN OTHER CAUSES

Dactylitis Osteomyelitis Cholecystitis
Painful crisis Avascular necrosis of the femoral and humeral Peptic ulcer disease
Acute chest syndrome head Acute surgical abdomen
Hepatic sequestration Leg ulcers Withdrawal from opiates
Hepatic crisis Arthropathy Loose hip or shoulder prosthesis
Splenic sequestration Trauma
 Wayne Robinson, MBBS Class of 2015
Right upper quadrant syndrome Any other cause of pain
Left upper quadrant syndrome
Abdominal painful crisis
Priapism
Stroke

ACUTE PAIN SYNDROMES

Dactylitis (Aka. Hand-Foot Syndrome)
• ***Avascular necrosis of the bone marrow of the proximal phalanges
• *** Usually first sign of SCD in infants over the age of 6 months
• Symptomatic treatment
• NOTE WELL: If unilateral, MUST differentiate from osteomyelitis as treatment significantly differs.
Osteomyelitis requires at least 4-6 weeks of IV antibiotics

--
Acute painful crises – Risk factors

• Males > Females

• 15 – 29 years
• SS and Sβ0thal
• Last trimester of pregnancy
• Haematology
o High Hb
o Low fetal Hb concentration

*** Precipitating causes:

• Dehydration
• Hypoxia
• Infection
• Cold exposure
• Acidosis
• Prolonged swimming
• Psychosocial stressors

**TREAT BASED ON WHO ANALGESIC 3-STEP LADDER!!!**

1. Non-opioids: Paracetamol (Acetaminophen), NSAIDs

2. Opioids for mild-moderate pain: Codeine +/- paracetamol, Tramadol (atypical opioid analgesic),
Dextropropoxyphene + Paracetamol
3. Opioids for moderate to severe pain: Morphine, Diamorphine, Hydromorphone, Oxycodone, Fentanyl,
Methadone
STEP 1 UP AT A TIME THEN STEP BACK DOWN

May add adjuvant therapy:

• Antihistamines
o Decrease pruritus
o Potentiates the analgesic effect of opioids
• Anti-emetics
o Potentiates the analgesic effect of opioids
• Laxatives
o Abdominal pain from chronic constipation
• Antidepressants
o Amitriptyline (useful in neuropathic pain)
 Wayne Robinson, MBBS Class of 2015
• Anticonvulsants
o Gabapentin, Lamotrigine

• Deliver: By the mouth (route of choice), By the ladder and by the clock
• PRN prescription does not work for the pain. Need to administer “by the clock” to keep blood levels in the
therapeutic range
--
Abdominal pain

1. Hepatic/gall bladder disease (RUQ syndrome)

• Hepatic sequestration
• Cholelithiasis
• Cholecystitis
2. Spleen: ASS vs. Infarction
3. Abdominal painful crises
4. Other

---
ACUTE CHEST SYNDROME (ACS)
• Constellation of findings including chest pain, fever with associated respiratory symptoms and is
characterized by a NEW infiltrate on CXR. Predominantly involves LEFT LOWER LOBE
• May find multiple infiltrates + pleural effusions on CXR

Nelson’s:
• Even in the absence of respiratory symptoms, ALL SCD PATIENTS WITH FEVER should receive a chest
radiograph to identify ACS!!!! because clinical examination alone is insufficient to identify patients with a new
radiographic density, and early detection of acute syndrome will alter clinical management.
• **Given that pneumonia and sickling in the lung can both produce these symptoms, the patient is treated for both conditions.

Pathophysiology: Not fully known. Infection is best known cause/embolism/fat embolism/sequestration/infarction

(Pneumococcus, mycoplasma, chlamydia most common) (So, infection or anything causing vaso-occlusion in lung may cause ACS)

Treatment:
• Oxygen (Keep sats > 95%)
• Hydration
• Antibiotics - Penicillin based AND macrolide – for ALL EPISODES – because of clinical overlap with
pneumonia
o Nelson’s: As a result of the clinical overlap between pneumonia and ACS, ALL episodes should be
treated promptly with antimicrobial therapy!!, including at least a macrolide AND a third-generation
cephalosporin to treat the most common pathogens associated with ACS, namely Streptococcus
pneumoniae, Mycoplasma pneumoniae, and Chlamydia spp.

• May need simple transfusion or exchange transfusion - Reason: Need to correct the hypoxia.
o Nelson’s: Some indications for transfusion: decreasing oxygen saturation, increase work of breathing,
rapid change in respiratory effort either with or without a worsening chest radiograph, or previous history
of severe ACS requiring admission to the intensive care unit.

SPLENIC SEQUESTRATION
• *** An acute enlargement of the spleen associated with a fall in Hb of 2 g/dl or more below steady
state
 Wayne Robinson, MBBS Class of 2015
• Reticulocytosis and a decrease in the platelet count may be present
• Recurrence is likely (~ 50% and usually within 6 months of previous episode)
• TEACH CAREGIVERS HOW TO PALPATE SPLEEN
• **Significant percentage fatal!!! Each subsequent episode greater risk of being more severe.
• **Recommended prophylactic splenectomy after 2 episodes of sequestration

If splenectomy done:
• Need to ensure vaccines up to date
• And continue penicillin prophylaxis for 3 more years

Splenic Infarction
• More common in the milder genotypes (SC & SB+ > SS & SB0)

--
PRIAPISM
• Involuntary penile erection lasting > 30 minutes – (20% have at least 1 episode before 20)

Types
1. Stuttering: Last 10-15 mins – repeated over several hours
2. Prolonged: Several hours
3. Persistent: Last weeks to years

Management:
Try to abort episode:
• Warm showers
• Pass urine
• Exercise
• Increased fluid intake
• Strong analgesia

Treat – Urology referral

• IV Analgesics
• Aspiration (of blood from corpora cavernosa) and irrigation (with dilute epinephrine)
• Shunting

Prevention: Very difficult

• Alpha adrenergic agonists

CHRONIC PAIN SYNDROMES

Osteomyelitis (esp. salmonella and s. aureus) vs. AVN

Difficult to differentiate the 2
X-rays may help if symptoms > 2/52

Bone scans NOT helpful to differentiate the 2. Increased uptake in both conditions
Marrow scans useful BUT NOT DONE AT UHWI

Aspirates helpful to differentiate

AVN of hip:
• Grade with MRI or x ray
• On suspicion -> Stop weight bearing
• Hip replacement if permanent damage
 Wayne Robinson, MBBS Class of 2015
Leg ulcers
• Over 30% of adult patients
• Difficult to treat once it becomes chronic
• Clean
• Daily dressing and elastic bandaging
• Elevation of leg
• Bed rest
• Possible zinc supplement may increase healing rate
• Skin grafting

Sickle Retinopathy (PSR)

• Incidence 33% in SC (i.e. Most common in SC)
• Incidence 3% in SS
• Annual screen after age 10 by ophthalmologist!! – Manage with laser photocoagulation

Neurological
• CVAs (~11% have overt and ~20% have silent strokes before 18)
o Ischaemic and haemorrhagic
o Aneurysms
o Moya-moya (?)
o Silent infarcts
• TIAs
• Elevated TCD
• Seizures
• Headaches

Transcranial Doppler
• Simple, non-invasive
• Used to predict stroke in children aged 2-16 yrs. with SCD. Use for primary prevention of stroke
• Measures the velocity of cerebral blood flow. Intervene at ≥ 200 cm/s: CHRONIC EXCHANGE
TRANSFUSION

Renal complications
• Haematuria/Papillary necrosis
• Decreased ability to concentrate urine
• Decreased potassium excretion

Risk factors for progression: Anaemia, proteinuria, haematuria Etc.

Chronic renal failure
 Wayne Robinson, MBBS Class of 2015
MODIFYING/CURING SCD
Options for CURE:
1. Hb F therapy: See moa
2. BM transplant: See moa
3. Gene therapy in future

Hb F
• High Hb F concentration is associated with a milder course
• High Hb F levels inhibits deoxygenated Hb S polymer formation.

Hydroxyurea is only drug FDA approved for use in SCD at this time
• Ribonucleotide reductase inhibitor which alters the maturation of erythroid precursors and promotes Hb F
production indirectly

Indications in Jamaica!!!
• Hb SS or Hb SBthal AND one or more of the following:

1. Recurrent painful crises

2. Recurrent acute chest syndrome
3. Severe symptomatic anemia
4. Stroke: 2 indications reasons:
o Abnormal TCD – to prevent the FIRST stroke
o Prevent recurrence

NOTE – KNOW THESE WELL!!!!:

• Gold standard for treatment for persons who have had a stroke. Once haemorrhagic stroke ruled out:
o EXCHANGE TRANSFUSION WITHIN 48 HOURS FROM ONSET OF SYMPTOMS IDEALLY

• Gold standard for child with first stroke to minimize risk of recurrent stroke:
o LIFELONG CHRONIC EXCHANGE TRANSFUSION. Every 2-3 months. To keep Hb S below
30%!!! In mostly 1st world. Has the problems of iron overload
o But in Jamaica can't sustain this so use HYDROXYUREA. Exchange transfusion NOT offered in Ja.

• Gold standard for abnormal TCD is the same as trying to prevent the first stroke:
o CHRONIC EXCHANGE TRANSFUSION

Hydroxyurea
***Most common side effect is mild bone marrow suppression. Just stop the hydroxyurea for a week until BM
recovers.
Others: Inc. serum Creatinine, hepatitis

***Decreases the following by 50%:

1. Painful crisis episodes
2. ACS episodes
3. Blood transfusions

Bone marrow and stem cell transplant

• In first world
• Reserved for severe
• Significant risk of mortality: 1 in 10 will die
Paediatrics Topic: Paediatric Surgery Source: Toronto Notes 2014 (Copy) November 2014
 Wayne Robinson, MBBS Class of 2015
Paediatrics
UTI Notes – VERY important topic to know completely!
Source: Nelson’s (Ch. 532), Toronto, UHWI UTI management guidelines
September 2014

INCIDENCE

• 1-3% of girls – 1st UTI usually by age 5

• 1% of boys – Most UTIs occur in 1st year of life
• 7% of infants and young children who present with fever

• During 1st year of life: M > F – 3-5:1

• Beyond 1-2 years: F > M – 1:10

[Only 2% of children with renal insufficiency report a history of UTI]

AETIOLOGY
**LOOK UP ORGANISMS BY AGE GROUP (PROBABLY FROM A UHWI LECTURE)**
Remember: Viruses, esp. Adenovirus, can also cause UTI

• **Majority (>95%) have a mono-microbic cause with E. coli identified as the causative agent most of the
time (~70%)
o Polymicrobial infections common in those with structural abnormalities

• Mainly caused by COLONIC bacteria

o Girls -> 75-90% due to E. coli. Then klebsiella (2nd) and Proteus spp.

• Gram-negative bacilli: E. coli, Klebsiella, Proteus, Enterobacter, Pseudomonas

• Gram-positive cocci: S. saprophyticus

• VIRAL aetiologies also possible, esp. with cystitis: Adenovirus

CLASSIFICATION

3 basic forms of UTI (Based on UHWI document – so this classification is more from a management perspective):

1. Pyelonephritis – Febrile bacteriuria with systemic symptoms (vomiting, renal angle tenderness etc.)
2. Cystitis – UTI without systemic symptoms but with lower tract symptoms and signs (dysuria, frequency, etc.)
3. Asymptomatic bacteriuria – Significant bacteriuria without any symptoms

Pyelonephritis and Cystitis:

• Pyelonephritis: Inflammation of renal pelvis and parenchyma
• Cystitis: Inflammation of the bladder AND urethra

Asymptomatic bacteriuria:
• Positive urine culture without any manifestations of infection
• More common in girls
• RARE in boys
• Benign and causes no renal injury. EXCEPT in pregnancy where it may progress to a symptomatic UTI

PATHOGENESIS

• Most UTIs are ascending infections

 Wayne Robinson, MBBS Class of 2015
o Bacteria arise from faecal flora -> colonize perineum -> enter urethra -> enter bladder -> some cases
ascend to kidney
o In uncircumcised boys, bacterial pathogens arise from the flora beneath the prepuce

• Rarely renal infection occurs by haematogenous spread

• Pyelonephritis can result in renal injury and scarring. Risk highest in age < 2

RISK FACTORS

A. HOST FACTORS

• Non-modifiable: Female gender, previous UTIs, family history

• Modifiable:
o Urinary tract abnormalities (vesicoureteral reflux*, neurogenic bladder, obstructive uropathy -> stasis,
posterior urethral valves*)
o Uncircumcised males
o Labial adhesions
o Urethral catheterization/instrumentation Eg. for voiding cystourethrogram
o Dysfunctional voiding
o Sexually active
o Constipation -> voiding dysfunction
o Toilet training
o Wiping from back to front

NOTE WELL:
• ** Vesicoureteral reflux is a risk factor for pyelonephritis NOT cystitis
• ** Breast-fed infants have less UTIs than formula fed
• ** Grade III, IV or V VUR + Febrile UTI = 90% have acute pyelonephritis

B. BACTERIAL FACTORS

• Bacteria with P fimbriae

[***Unlikely that we would ever need to know this: Basically have an idea that there are 2 types of fimbriae. Type 1 and
type 2. Most E coli strains have type 1, few have type 2. Type 1 has no role in pyelonephritis. Type 2 aka. P fimbriae
attach to receptors on uroepithelium and RBCs. Up to 96% of pyelonephritogenic strains have P fimbriae]

CLINICAL FEATURES

Say this: Clinical features depend on **AGE GROUP of patient and **TYPE of UTI

GENERAL FOR UTIs

HISTORY

• Infants and young child: Often just fever or non-specific symptoms (poor feeding, irritability, FTT,
***jaundice if < 28 d old, vomiting)

• Older child: Fever, urinary symptoms (dysuria, urgency, frequency, incontinence, hematuria), abdominal
and/or flank pain

UHWI document:
 Wayne Robinson, MBBS Class of 2015
• Straining + constipation + urge incontinence + secondary diurnal enuresis + encopresis -> suggest dysfunctional
elimination syndrome
• Poor urinary stream – MUST ASK IN HISTORY!!! – May indicate posterior urethral valves
• Poor stream + gait disturbance + spinal cord problems -> suggest possible neurogenic bladder

EXAMINATION
• Infants and young child: Toxic vs. non-toxic, febrile, **FTT, jaundice; look for external genitalia
abnormalities (phimosis, labial adhesions) and lower back signs of occult myelodysplasia (e.g. hair tufts),
which may be associated with neurogenic bladder

• Older child: Febrile, suprapubic and/or CVA tenderness, abdominal mass (enlarged bladder or kidney); may
present with short stature, FTT (**remember to assess growth parameters) or **hypertension secondary to renal
scarring from previously unrecognized or recurrent UTIs

SPECIFIC:

• PYELONEPHRITIS:
Characterized by any or all of:
o Fever [FEVER MAY BE THE ONLY MANIFESTATION!!!]
o Abdominal, back or flank pain
o Malaise
o Nausea
o Vomiting
o +/- diarrhoea
o NEWBORNS: Non-specific symptoms – poor feeding, irritability, jaundice and weight loss

o These symptoms indicate bacterial involvement of the UPPER URINARY TRACT

o Involvement of the renal parenchyma is termed acute pyelonephritis
o No parenchymal involvement (ie. pelvis only) = pyelitis
o ***Acute pyelonephritis can result in renal injury -> PYELONEPHRITIC SCARRING

o Renal abscess can also occur following pyelonephritis OR may be secondary to a primary bacteraemia (S.
aureus)

o Perinephric abscess can occur secondary direct spread from infection in the perirenal area incl. vertebral
osteomyelitis, psoas abscess OR from pyelonephritis that dissects into renal capsule

• CYTITIS:

o Dysuria, urgency, frequency, suprapubic pain, incontinence, malodorous urine

o IMPORTANT: CYSTITIS DOES NOT CAUSE FEVER and does NOT RESULT IN RENAL INJURY

o Acute haemorrhagic cystitis --> often due to E. coli. Also ADENOVIRUS TYPES 11 and 21
o Adenovirus more common in boys. Self-limiting with haematuria < 4 days

INVESTIGATIONS AND DIAGNOSIS

[Nelsons, Toronto an UHWI document]
(Must know this perfectly. See details in the UHWI document)

GOLD STANDARD FOR DIAGNOSIS: URINE CULTURE NECESSARY FOR CONFIRMATION AND
APPROPRIATE THERAPY

1. Urine C&S/R – Gold standard – See interpretation below

 Wayne Robinson, MBBS Class of 2015
2. Urine microscopy: Bacteria and leucocytes, microscopic haematuria. White blood cell casts suggests renal
involvement BUT RARELY SEEN
3. Urinalysis/Dipstick: Leukocyte esterase, nitrites, erythrocytes
4. CBC
5. U&Es
6. +/- Blood culture, septic screen if sepsis suspected

** 3 MAIN WAYS OF URINE COLLECTION

1. Bladder tap/Suprapubic aspirate (SPA)

• Percuss first! Do not perform if not percussable. Apply Betadine + alcohol
• Can use UP TO AGE 2. Reason: After this, bladder descends into pelvis!!

2. Voided urine (MSU, clean catch urine)

• In toilet-trained
• Clean external genitalia first
• In uncircumsized boys -> MUST retract prepuce!

3. Catheter Sample of Urine (CSU)

• If not toilet trained
• Can use for any age (?)
• Clean with betadine (see details in UHWI document)

CULTURE-based diagnosis (not microscopy):

Significant bacteriuria:
1. SPA = Any growth
2. CSU = ≥ 104 organisms/ml
3. MSU = > 105 organisms/ml. (Between 104 – 105 = suspicious) – (***2 samples with same organism, same sensitivity)

Sterile pyuria = Positive leucocytes, negative culture (ie. Pus/WBCs in urine but no infection)

Assess urine promptly or refrigerate specimen as minor contamination can overgrow

Acute renal infection:

• Increased WBC, neutrophilia, increased ESR and CRP
• Renal abscess: WCC markedly elevated
• Sepsis is common in pyelonephritis so blood cultures & sepsis screen should be considered

UHWI DOCUMENT:
MUST KNOW WELL: FURTHER INVESTIGATIONS

ALL CHILDREN IRRESPECTIVE OF AGE SHOULD BE INVESTIGATED AFTER THE FIRST UTI

**NOTE: This is separate from (ie. in addition to) the investigations to diagnose the UTI. These investigations are
to detect abnormalities of the urinary tract that may be predisposing the patient to UTI**

These further investigations mainly depend on whether the child is < 5 years old or ≥ 5 years old
P.T.O
 Wayne Robinson, MBBS Class of 2015
AGE < 5 at first UTI

1. Renal U/S – FOR ALL. Renal length and looking for anatomical abnormalities
2. MCUG – FOR ALL. Look for dilatation of posterior urethra in boys (suggesting PUV), VUR, “spinning top
urethra” -> unstable bladder, “Christmas tree” appearance -> neurogenic bladder
3. +/- Nuclear scan – evaluate scarring

AGE ≥ 5 at first UTI

1. Renal U/S – FOR ALL

2. MCUG – FOR ALL MALES. Or if female with abnormal history, exam or U/S
3. +/- Nuclear scan – evaluate scarring

Nuclear scan options:

Indications: Febrile UTI, recurrent febrile UTI, abnormal MCUG or U/S, follow-up of VUR, **repeat in 6 months if
initial scan abnormal!

Scarring only:
1. Gold standard – DMSA (dimercaptosuccinic acid) – NOT AVAILABLE LOCALLY

Scarring and function:

2. 99Tc GC scan (Glucoheptonate) – 1st choice locally
3. 99Tc MAG 3 scan – 2nd choice locally

MANAGEMENT
READ THIS ALL THE WAY TO THE END!! MUST KNOW THE FOLLOW UP AND PROPHYLAXIS!!

***Remember NEVER to give antibiotics in UTIs for less than 10 days in a paediatric patient***

3 main groups:
1. Afebrile, asymptomatic
2. Afebrile, symptomatic
3. Febrile – Outpatient vs. Inpatient
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015

VERY VERY IMPORTANT

FOLLOW-UP AND MONITORING (UHWI DOCUMENT + CONSULTANT)
Note well:
• ***MUST repeat urine cultures 48 hours after starting AND 48 hours after finishing!!! the course.
Must be clear at BOTH.
• Adjust antibiotic therapy according to sensitivity and response
• At day 10, start prophylaxis!!!!! in cases where indicated (see below)

RE: PROPHYLAXIS AGAINST RECURRENT UTI

• Prophylaxis is STARTED for ALL children with UTI. Continued until investigations normal.
o ***Prophylaxis dose is 25-30% of treatment dose!!

• < 1 year old:

o Start and keep them on prophylaxis until 1 year of age AND in addition the further investigations must be
completed negative. Must meet other criteria

• For age > 1: Keep them on prophylaxis until investigations are done completed and are normal. Must do repeat
urine cultures every 2-3 months to pick up recurrence

Other indications to continue prophylaxis!!!

• VUR – all grades
• Hydronephrosis – until resolved
• Obstructive uropathy
• Recurrent symptomatic UTI

OTHER NOTES:
• Aminoglycosides (eg. gentamicin) --> Potential nephrotoxicity and ototoxicity
• Aminoglycosides particularly effective against pseudomonas

• Nitrofurantoin NOT good for renal involvement as it does not reach significant tissue levels

• Renal or peri-renal abscess:

o May require surgical or percutaneous drainage + antibiotic therapy

COMPLICATIONS

• RENAL SCARRING
• Chronic renal damage --> ARTERIAL HYPERTENSION AND END STAGE RENAL INSUFFICIENCY
• HYDRONEPHROSIS
o SEE UHWI DOCUMENT
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Vesicoureteric reflux
Source: Oxford
October 2014

DEFINITION AND INCIDENCE

• VUR: The retrograde flow of urine from the bladder into the upper urinary tract.
• Usually congenital, but may be acquired (e.g. post-surgery)
• VUR combined with UTI leads to progressive renal scarring.
• Such reflux nephropathy may progress to end-stage renal failure if untreated
• Incidence of VUR is ~1% in newborn infants. Observed in 30–45% of young children (< 5yrs) presenting with
UTI. There is often a strong family history with a 35% incidence rate among siblings of affected children.

GRADE OF VUR
International Reflux Study grading system:

DIAGNOSIS
The diagnosis of VUR is established by radiological techniques.
1. Micturating Cystourethrogram (MCUG)
This technique involves urinary catheterization and the administration of radiocontrast medium into the bladder.
Reflux is detected on voiding.
• Advantages: GRADE of reflux seen
• Disadvantages: Requires bladder catheterization, radiation dose.

2. Indirect Cystogram
A radionucleotide method. Includes mercaptoacetyltriglycine (MAG-3) and diethylenetriamine pentaacetic acid
(DTPA) scans.
• Advantages: No catheterization required; lower radiation dose.
• Disadvantages: False negatives found; co-operation of child to void is needed

FOLLOW-UP AND TREATMENT

• The aims are to prevent progressive renal scarring.
• Prophylactic antibiotics may be used to prevent this
 Wayne Robinson, MBBS Class of 2015
• Imaging by indirect cystogram (e.g. MAG-3) and DMSA are sometimes used for follow-up
• ***Randomized controlled trials of medical versus surgical treatment show surgery can reduce the incidence of
pyelonephritis, but there is no difference in scarring compared with medical treatment.

Medical therapy
• Prophylactic antibiotic therapy (See UTI notes)
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Wheezing, Bronchiolitis Notes
Source: Nelson’s (Ch 383), Toronto, Lecture, WHEEZE HISTORY OSCE TICK SHEET (Last Page)
September 2014

DEFINITIONS
• Wheeze: A musical and continuous sound that originates from oscillations in narrowed airways

• Obstruction/narrowing of lower airways produces wheeze (heard mostly on expiration. Airways are narrower in
expiration)
• Obstruction of extrathoracic airways produces stridor (heard mostly on inspiration)

AETIOLOGY OF WHEEZE
• Most wheezing in infants caused by inflammation. Generally bronchiolitis (SEE PAGE 4)

Other causes of wheezing:

NOTE FROM LECTURE: The most likely diagnosis in children with recurrent wheezing is asthma, regardless of
the age of onset, evidence of atopic disease, precipitating causes, or frequency of wheezing

• Chronic infectious wheezing --> Cystic fibrosis – suspect in pt with persistent respiratory symptoms, clubbing,
malabsorption, failure to thrive, electrolyte abnormalities, resistance to bronchodilators

• Allergy and asthma

• Congenital malformations of the respiratory tract cause wheezing in early infancy

o Can be due to external compression or intrinsic abnormality

o External vascular compression: Vascular ring vs. vascular sling. Ring encircles trachea and oesophagus
completely. Sling incomplete

• Cardiovascular causes of wheezing:

o ***Enlarged chambers: Cardiomegaly, LAH/LAD, dilated pulmonary arteries -> All cause extrinsic
compression
o ***Also CCF --> Pulmonary oedema --> wheezing due to bronchial vessel engorgement

• Foreign body aspiration -> Can cause acute or chronic wheezing

• GER(D) – WITH OR WITHOUT direct aspiration. Without aspiration --> causes wheeze by triggering a vagal
(parasympathetic) or neural reflex -> Increased airway resistance and reactivity.

• Trauma/tumors – RARE causes in infancy

 Wayne Robinson, MBBS Class of 2015

FROM LECTURE:
(Consider AGE of patient when thinking about top differentials - < 5 or > 5)

• Other causes of ACUTE: Acute asthma, bronchitis, LTB, bacterial tracheitis, foreign body aspiration,
oesophageal foreign body

• CHRONIC wheezing:
o Asthma o Vocal cord dysfunction
o Gastroesophageal reflux o Interstitial lung disease
o Recurrent aspiration o Tuberculosis
o Obstructive Sleep Apnea o Lymphoma
o Cystic fibrosis o Worms
o Immunodeficiency (Congenital and o Sickle cell disease
Acquired)
o HIV: Lymphocytic interstitial pneumonia Structural abnormalities:
o Primary ciliary dyskinesia o Tracheo-bronchomalacia
o Bronchopulmonary dysplasia o Vascular compression/rings
o Retained foreign body (trachea or o Tracheal stenosis/webs
oesophagus) o Cystic lesions/masses
o Bronchiolitis obliterans o Tumors/lymphadenopathy
o CHD: L -> R shunts o Cardiomegaly
o LV failure and Pulmonary edema

CLINICAL MANIFESTATIONS OF WHEEZING

**HISTORY IN ANY CHILD WITH WHEEZE**

Must include history of the current complaint including onset, duration

ALSO
 Wayne Robinson, Class of 2015

• Birth history:

o Weeks of gestation
o NICU admission
o History of intubation/oxygen requirement
o Maternal complications including infection with HSV or HIV
o Prenatal smoking

• Past medical history – any comorbid conditions

• Family history:

o Asthma in a 1st degree relative

o Immunodeficiencies
o Cystic fibrosis

• Social history:

o Include environmental history

o Smokers at home (inside and outside)
o Daycare exposure (all exposures, even church in a 2 week old. Got grinded for this on rounds)
o Number of siblings
o Occupation of inhabitants at home! (again related to exposure risk. Got grinded on rounds)
o Pets
o TB exposure
o General home environment: Dust mites, construction work, AC, mold, cockroaches

PHYSICAL EXAMINATION

***Respiratory rate
***Pulse ox!!

• Expiratory time may be prolonged

• Biphasic wheezing may occur if there is central, large airway obstruction!!

***Lack of audible wheezing is NOT REASSURING if the infant shows other signs of respiratory distress because
complete obstruction to airflow can eliminate the turbulence

• Must note air entry

***Listening to breath sounds over the neck helps differentiate upper airway sounds from lower airway sounds

Note the PRESENCE OR ABSENCE of stridor

Signs of respiratory distress:

• Nasal flaring
• Tracheal tugging
• Infraclavicular, intercostal, subcostal recession
• Excess use of accessory muscles (incl. sternocleidomastoid, scalene muscles (3))

Upper airway signs of atopy: Boggy turbinates, posterior oropharynx cobblestoning

*** Evaluate the skin of the patient for eczema and any significant haemangiomas
 Wayne Robinson, Class of 2015
From Lecture:
HISTORY FOR A WHEEZING PATIENT (SEE LAST PAGE OF DOC FOR TICK SHEET):

o Age of onset o Greasy stool (cystic o Number of siblings

o Course of onset (Acute vs. fibrosis?) o Occupation of inhabitants
chronic) o Eczema at home
o Cough o Choking o Pets
o Shortness of breath o Triggers o TB exposure
o Chest pain o Cold air o Worms
o Cyanosis o Allergic rhinitis o Family history of
o Exercise-induced o Weight loss Atopy/Asthma
symptoms o Recurrent infections o Past use and response to
o Postnasal drip o Birth history bronchodilators
o Snoring o Environmental history o Food allergies
o Spitting up o Smokers at home o Co-morbid conditions

Lecture: EXAMINATION

• Anthropometry tracheal deviation

• Vital signs, SPo2 • Chest wall asymmetry Crackles can be present in
• Cyanosis or clubbing with expansion conjunction with wheezing
• Allergic shiners • Asthma
• Lymph nodes Percussion • Bronchiectasis
• Position of the diaphragm
Chest examination & detect differences in Examination should also focus
Inspection resonance on cardiac findings
• Respiratory distress, • Murmurs
tachypnea, retractions Auscultation • Signs of heart failure
• Increased anteroposterior • Location of wheezing
(AP) diameter • Character Skin for eczema
• Harrison sulci • Prolonged expiratory
• Scoliosis complicated by phase suggests airway ENT examination
airway compression narrowing • Allergic rhinitis
• Sinusitis
Palpation Focal wheezing suggest localized • Nasal polyps
• Supratracheal & structural airway abnormality • Tonsils
lymphadenopathy or • Airway evaluation by
imaging or bronchoscopy

Investigations – See “Wheezing Child” lecture

---
ACUTE BRONCHIOLITIS
DEFINITION
• LRTI that has wheezing and signs of respiratory distress
• Medscape: An acute inflammatory injury of the bronchioles (hence bronchiolitis) that is usually caused by a viral
infection (most commonly respiratory syncytial virus and human metapneumovirus). This condition may
occur in persons of any age, but severe symptoms are usually evident only in young infants.

EPIDEMIOLOGY

• The most common LRTI in infants, affects 50% of children in first 2 yr of life; peak incidence at 6 mo, winter or
early spring
 Wayne Robinson, Class of 2015
• Increased incidence of asthma in later life!

AETIOLOGY
Most wheezing in infants caused by inflammation. Generally bronchiolitis:

• Acute bronchiolitis and inflammation of the airway

• Infection can cause obstruction to flow by internal narrowing of the airway

• ***RSV invades the nasopharyngeal epithelium and spreads to the lower airways where it causes increased
mucus production, desquamation, and then bronchiolar obstruction

• Acute bronchiolitis is predominantly a viral disease

o RSV in > 50% of cases

• Also parainfluenza, influenza, rhinovirus, adenovirus. M. pneumoniae (rare)

• Emerging pathogen: Human metapneumovirus

• **THERE IS NO EVIDENCE OF A BACTERIAL CAUSE FR BRONCHIOLOITIS although bacterial

pneumonia is sometimes confused clinically with bronchiolitis

• Bronchiolitis is RARELY followed by bacterial superinfection

RISK FACTORS

1. Boys > girls

2. Non-breastfed
3. Crowded conditions
4. Mother smoked during pregnancy
5. See others throughout

**Older family members are a COMMON SOURCE OF INFECTION – they may only experience minor URT
symptoms. Older people tolerate bronchial oedema better

**!There is an increased risk of severe infection in infants with CHD, CLD of prematurity, immunodeficiency, and other
lung disease.

* Coinfection with > 1 virus can also alter severity

**Airway resistance is inversely proportional to radius of the bronchioles to the 4th power. Children have smaller
airways so resistance is exponentially higher in both inspiration and expiration. Because airways smaller in expiration,
respiratory obstruction leads to AIR TRAPPING AND HYPERINFLATION

** If obstruction complete --> ATELECTASIS

• Hypoxaemia is a consequence of ventilation-perfusion mismatch resulting from the air trapping early in the
course!
• Severe obstructive disease and tiring of respiratory effort --> Hypercapnia later!

History

***Usually preceded by exposure to an older contact with a minor respiratory syndrome the previous week

• Infant 1st develops prodrome of a mild URTI with sneezing and clear rhinorrhea
• +/- Decreased appetite and
 Wayne Robinson, Class of 2015
• Feeding difficulties caused by tachypnoea
• Fever – ALTHOUGH the temperature can range from SUBNORMAL to MARKEDLY ELEVATED

• Irritability
• Dyspnoea
• Cough
• Wheezing
• Cyanosis
• Apnoea

Physical Examination:

• Tachypnoea
• Cyanosis
• Prolonged expiration
• Wheezing and crackles
• Barely audible breath sounds suggest very severe disease with nearly complete bronchiolar obstruction

• ***Hyperinflation of the lungs can permit palpation of the liver and spleen below the costal margin

INVESTIGATIONS

• ***Diagnosis of acute bronchiolitis IS CLINICAL

KEY INVESTIGATIONS

1. PULSE OX AND NONINVASIVE CO2 essential as tachypnoea does not always correlate with hypoxemia or
hypercarbia

2. CXR (usually in severe disease, poor response to therapy, chronic episode)

a. Air trapping, hyperinflation, peribronchial thickening, patchy atelectasis, increased linear markings,
retrosternal air
3. Nasopharyngeal swab
a. Direct detection of viral antigen (immunofluorescence)

Others
• WBC can be normal
• “Trial of bronchodilator” – diagnostic and therapeutic can reverse conditions incl bronchiolitis and asthma but
will not affect a fixed obstruction

• Sweat test – evaluate for cystic fibrosis

TREATMENT
MAINSTAY OF TREATMENT OF BRONCHIOLITIS IS SUPPORTIVE
Self-limiting disease with symptoms usually lasting 2-3 wks

Mild distress:
• Supportive: Oral or IV hydration, O2 (nasal cannula/facemask) antipyretics for fever
• Treat usu with patients sitting with head and chest elevated at a 30o angle with neck extended
• SUCTIONING OF SECRETIONS IS AN ESSENTIAL PART OF MANAGEMENT
• Feed via NGT if risk of severe. Due to risk of aspiration
• If very severe and intubation may be requires -> IV fluids only
• Bronchodilators for wheeze: nebulized salbutamol, ipratropium, and adrenaline have all been used in studies.
 Wayne Robinson, Class of 2015
The best evidence is for nebulized adrenaline.
• Mechanical ventilation for severe respiratory distress or apnoea.

Moderate to severe distress

• As above ± intubation and ventilation as needed
• Consider rebetol (Ribavirin®) in high risk groups: bronchopulmonary dysplasia, CHD, congenital lung disease,
immunodeficient

Monthly RSV-Ig or palivizumab (monoclonal antibody against the F-glycoprotein of RSV) is protective against severe
disease in high risk groups; case fatality rate <1%

Antibiotics have no therapeutic value unless there is secondary bacterial pneumonia

INDICATIONS FOR HOSPITALIZATION:

• Hypoxia: O2 saturation <92% on initial presentation

• Persistent resting tachypnea > 60/min and retractions after several salbutamol masks
• Past history of chronic lung disease, haemodynamically significant cardiac disease, neuromuscular problem,
immunocompromised
• Young infants < 6 months old (unless extremely mild)
• Significant feeding problems
• Social problem (e.g. Inadequate care at home)

Prophylaxis
• IM Palivizumab is a monoclonal antibody to RSV and can be used as prophylaxis.
Wayne Robinson, Class of 2015
Paediatrics Respiratory Distress in the Newborn Source: Toronto Notes Wayne Robinson, MBBS Class of 2015
!
Respiratory Distress Syndrome Transient Tachypnoea of the Meconium Aspiration
(RDS) Newborn (TTN) Syndrome (MAS)
(“Hyaline Membrane Disease”) (“Wet Lung Syndrome”)
Aetiology Surfactant deficiency ! poor lung Delayed resorption of fetal lung fluid ! Meconium is sterile but
compliance due to high alveolar accumulation of fluid in peribronchial causes
surface tension ! atelectasis ! ↓ lymphatics and vascular spaces ! airway obstruction, chemical
surface area for gas exchange ! tachypnoea inflammation, and surfactant
hypoxia + acidosis ! respiratory inactivation
distress
Gestational Preterm More commonly term and late preterm Term and post-term
Age
Risk Factors Maternal diabetes Maternal diabetes Meconium-stained amniotic
Preterm delivery Maternal asthma fluid
Male sex Male sex Post-term delivery
Low birth weight Macrosomia (> 4500 g)
Acidosis, sepsis Elective caesarean section or short
Hypothermia labour
Second born twin Late preterm delivery
Clinical Onset within first few hours of life, Tachypnoea within the first few hours Respiratory distress within
Presentation worsens over next 24-72 h of life ± retractions, grunting, nasal hours of birth
Respiratory distress (tachypnoea, flaring Small airway obstruction,
tachycardia, grunting, intercostal Often NO hypoxia or cyanosis chemical pneumonitis !
indrawing, nasal flaring, cyanosis, lung tachypnea, barrel chest with
crackles) audible crackles
Hypoxia Hypoxia
Cyanosis
CXR Findings Homogenous infiltrates Perihilar infiltrates Hyperinflation
Reticulogranular pattern “wet silhouette”; fluid in fissures Patchy atelectasis
Air bronchograms Patchy and coarse infiltrates
Decreased lung volumes 10-20% have pneumothorax
May resemble pneumonia (GBS)
If severe, “white-out” with no
differentiation of cardiac border
Prevention Prenatal corticosteroids (e.g. Where possible, avoidance of elective If infant is depressed at birth,
Celestone® 12 mg q24h x 2 doses) if caesarean delivery, particularly before intubate and suction below
risk of preterm delivery < 34 wks 38 wks gestation vocal cords
Avoidance of factor associated
Monitor lecithin:sphingomyelin (L/S) with in utero passage of
ratio with amniocentesis, L/S >2:1 meconium, e.g. post term
indicates lung maturity delivery

Treatment Resuscitation Supportive Resuscitation

Oxygen Oxygen if hypoxic Oxygen
Ventilation Ventilator support (e.g. CPAP) Ventilatory support
Surfactant (decreases alveolar IV fluids and lavage feeds Surfactant
surface tension, improves lung Inhaled nitric oxide,
compliance and maintains functional extracorporeal membrane
residual capacity) – only useful in the oxygenation at some centres
first 72 hrs for PPHN
Complications In severe prematurity and/or Hypoxaemia Hypoxaemia
prolonged ventilation, increased Hypercapnoea Hypercapnoea
risk of bronchopulmonary dysplasia Acidosis Acidosis
(BPD) PPHN PPHN
Pneumothorax
Pneumomediastinum
Chemical pneumonitis
Secondary surfactant inhibition
Respiratory failure
Prognosis Dependent on gestation at birth and Recovery usually expected in Dependent on severity,
severity of underlying lung disease; 2-5 d mortality up to 20%
long term risks of CLD
!
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Diarrhoea
Source: Ward rounds (May Pen) – Dr. Reem, Toronto Notes
October 2014

Topic: Diarrhoea

Remember when thinking of causes of diarrhea, classify into infectious and non-infectious

• Then under infectious, viral, bacterial and parasitic. (STUDY ALL THE CAUSES IN THE TABLE BELOW)

Causes of dysentery = Shigella, EHEC, EIEC, Entamoeba histolytica

Re: Acute diarrhoea:

• Normal stool frequency and consistency vary, e.g. breastfed infants may pass 10–12 stools per day, primary
school children may pass stool from three times a day to once every three days. Diarrhoea is a change in
consistency and frequency of stools with enough loss of fluid and electrolytes to cause illness.

• In older children, usually > 3 loose/watery stools/day

In diarrhoea history: DON’T FORGET:

• Blood or mucus in the stool?
• Ill contacts/recent travel
• Ask about signs/symptoms of dehydration!!
• Ask how/with what exactly were the losses being replaced with
• Antibiotic use!!! (antibiotic-associated diarrhoea)
• Ask about rotavirus vaccine!!

TREATMENT OF DIARRHOEA

MANAGEMENT OF DEHYDRATION IS MOST IMPORTANT!!! (See dehydration lecture)

Anti-motility drug treatment is NOT recommended; it can be harmful, particularly in acute infection/inflammation.

Antibiotics are NOT indicated unless cause is proven, e.g. Yersinia or Campylobacter infection, parasitic infection, NEC,
or proven bacteraemia/systemic infection.
 Wayne Robinson, MBBS Class of 2015

!
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Diphtheria Summary Notes
Source: Toronto, Oxford
October 2014

DEFINITION
Upper respiratory bacterial illness caused by Corynebacterium diphtheriae (Gram positive bacilli, aerobic)
• Characterized by pharyngitis, low-grade fever, and nasopharyngeal pseudomembranes released by bacteria
(with possible dermatologic, cardiac and/or nervous system involvement)

EPIDEMIOLOGY
• Routine immunization has significantly reduced morbidity and mortality
• Diphtheria now very rare

AETIOLOGY
• Caused by lysogenized phage
• Transmitted by direct contact or droplet spread; incubation period is 2-5 d

RISK FACTORS
• Unvaccinated, immunocompromised, travel to or inhabitants of endemic countries

HISTORY
• Early symptoms similar to a common cold: low-grade fever, sore throat, anorexia, malaise
• Later symptoms (due to Diphtheria toxin): Pallor, diaphoresis, stupor, coma

PHYSICAL
• Grey membranes may cover tonsils and soft palate (at day 2-3); becomes greenish or black with
haemorrhage

• Cervical lymphadenopathy
• “Bull neck” secondary to submandibular oedema in severe disease

INVESTIGATIONS

*THROAT SWAB:
1. Microscopy: Albert’s stain: 1. Metachromatic granules, 2. Chinese letter configuration
2. Culture (specifically state that diphtheria is suspected as some labs only look for group A Streptococcus on
routine throat cultures)
a. Loeffler’s serum (If growth, then do Albert’s stain)
b. Tinsdale agar (Chocolate tellurite)
3. Toxin detection: Elek test

MANAGEMENT
Treat based on clinical SUSPICION!!; awaiting culture results will postpone treatment and worsen prognosis

• Diphtheria antitoxin
• **Penicillin G or **Erythromycin (halts furthers toxin production and prevents carrier state)

PROGNOSIS

• 5-10 % mortality for respiratory diphtheria

• Complications: airway obstruction, recurrent laryngeal nerve palsy
• Associated conditions: Diphtheritic peripheral neuritis, myocarditis
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Pertussis Summary Notes
Source: Toronto, Oxford
October 2014

DEFINITION

• Prolonged respiratory illness characterized by paroxysmal coughing and inspiratory “whoop” (Hence known
as “Whooping cough”). Caused by Bordetella pertussis (Gram-negative coccobacilli, aerobic)

**A whooping cough-like syndrome may be caused by Bordetella PARApertussis, Mycoplasma pneumoniae,
Chlamydia, or adenovirus.

EPIDEMIOLOGY

~10 million children < 1 yr old affected worldwide, causes up to 400,000 deaths per year
• Greatest incidence among children < 1 yr (not fully immunized) AND adolescents (waning immunity)

AETIOLOGY

• Bordetella pertussis: Gram-negative pleomorphic rod

• Highly contagious; transmitted via respiratory droplets released during intense coughing
• Incubation period: 6-20 d; ***most contagious during catarrhal phase but may remain contagious for weeks
after

HISTORY
May be a typical history. Typically induces three stages of illness:

1. Catarrhal stage
• Lasts 1-7 d; URTI symptoms (coryza, mild cough, sneezing) with NO or LOW-GRADE fever
• Most contagious during catarrhal stage

2. Paroxysmal stage

• Lasts 4-6 wks; characterized by severe paroxysms of cough (“100 day cough”), sometimes followed by:
• Inspiratory whoop (“whooping cough”) and post-tussive emesis, may become cyanotic before whoop
• ***Infants < 6 mo: whoop is often absent and post-tussive apnea is more common!

3. Convalescent stage
• Lasts 2-4 wks; characterized by occasional paroxysms of cough, but decreased frequency and severity
• Non-infectious but cough may last up to 6 mo

INVESTIGATIONS
1. Nasopharyngeal (NP) specimen using aspirate OR NP swab
• Gold standard: Culture using special media (Regan-Lowe agar) (previously Bordet-Gengou was
preferred)
• PCR to detect pertussis antigens
2. Blood work: CBC (lymphocytosis) and serology (IgG antibodies against B. pertussis)

In infants you will need to make sure that the problem is not pneumonia. Also, check the following:
• Eyes: Subconjunctival haemorrhages are common.
• CXR.
 Wayne Robinson, MBBS Class of 2015
MANAGEMENT
• Hospital care
o Infants: Admission is required for those with a history of apnoea, cyanosis, or significant paroxysms. Close
monitoring is required particularly in infants since there is a risk of seizures, encephalopathy, and death.

o Isolation: Patients should be isolated for 5 days after starting treatment with antibiotics!!!. Report to
public health

• Supportive care

• Antimicrobial therapy indicated if B. pertussis isolated, or symptoms present for <21 d

o Use macrolide antibiotics (azithromycin, erythromycin or clarithromycin)
o Erythromycin for 14 days (or clarithromycin for 7 days) to reduce infectivity but this may have
minimal effect on the cough
.
PROPHYLAXIS
• CONTACTS: Macrolide antibiotics for all household contacts
• Prevention with vaccination in infants and children < 7 (Pentacel), and booster in adolescents (Adacel)

COMPLICATIONS
• Pressure related from paroxysms: Subconjunctival hemorrhage, rectal prolapse, hernias, epistaxis
• Respiratory: Sinusitis, pneumonia, aspiration, atelectasis, pneumomediastinum, pneumothorax, alveolar rupture
• ***Neurological: Seizures (~3%), encephalopathy, intracranial haemorrhage
• Mortality: ~0.3%; highest risk in infants < 6 mo old
 Wayne Robinson, MBBS Class of 2015
Paediatrics
Vomiting Summary Notes
Source: Toronto, Oxford
October 2014

HISTORY
• Characteristics of emesis (e.g. projectile?, bilious?, bloody?)
• Pattern of emesis (e.g. association with feeds, cyclic, morning e.g. early morning vomiting with CNS tumour)
• Associated symptoms (e.g. anorexia, diarrhoea, etc.)
• Red flags: Bilious or bloody emesis, projectile vomit (pyloric stenosis), abdominal distension and tenderness,
high fever, signs of dehydration

PHYSICAL FINDINGS
• Vital signs to determine clinical status and hydration state
• Dictated by suspected differential

INVESTIGATIONS
• CBC, electrolytes, BUN, Cr, amylase, lipase done routinely
• In sick child, add: ESR, venous blood gases, culture and sensitivity (blood, stool), imaging dictated by suspected
differential (see Table 13)

TREATMENT
• Supportive treatment as needed: e.g. oral or IV REHYDRATION (SEE DEHYDRATION LECTURE)
• Treat UNDERLYING CAUSE: e.g. pyloromyotomy for hypertrophic pyloric stenosis.

Pharmacological:
• Antihistamines; phenothiazines (side-effects: extrapyramidal reactions);
• Prokinetic drugs, e.g. domperidone.
• 5-HT3 antagonists, e.g. ondansetron, are increasingly being used for treating post-operative or chemotherapy
induced vomiting.
• 5-HT1D agonists, e.g. pizotifen, are useful as prophylaxis and treatment for cyclic vomiting syndrome

COMPLICATIONS
• Dehydration
• Electrolyte disturbance (e.g. decreased K+, decreased Cl–, alkalosis with pyloric stenosis)
• Acute or chronic GI bleeding (e.g. Mallory–Weiss tear)
• Oesophageal stricture
• Barrett’s metaplasia
• Broncho-pulmonary aspiration
• Faltering growth (FTT)
• Iron deficiency anaemia (HCl required for iron absorption. HCl lost in vomitus (also causing alkalosis))
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015
LUMBAR PUNCTURE NOTES
Source: Video from New England Journal of Medicine
UHWI TICK SHEET ON LAST PAGE

INDICATIONS
Diagnostic vs. Therapeutic purposes
***ALSO administration of spinal and epidural anaesthesia involves essentially the same technique

DIAGNOSTIC
Analysis of CSF helpful in diagnosis of:

1. Infections – Meningitis, encephalitis, myelitis

2. Inflammatory CNS diseases – Guillain-Barre Syndrome

3. Oncologic – Leukemia

4. Metabolic processes

5. Subarachnoid haemorrhage

• Neonates:
– Sepsis evaluation
– Febrile child with suspected bacteraemia
– Children too young for accurate clinical evaluation of meningitis
– Apparent febrile seizure
– Mental status change with no identifiable cause

THERAPEUTIC

1. Intrathecal administration of:

a. Chemotherapeutic agents
b. Antibiotics
2. Management of pseudotumour cerebri

CONTRAINDICATIONS
Local vs. Systemic

LOCAL
1. Soft tissue infection over the lumbar spine area

SYSTEMIC

1. Signs of cerebral herniation, incipient herniation and raised ICP (Altered LOC, Headache?, bulging fontanelle,
papilloedema)

2. Focal neurological signs

• In both the above scenarios, cranial CT should be performed before LP!!!! Although CT may not reveal
signs of raised ICP (Eg. slit-like ventricles)

3. Coagulopathy or anticoagulation therapy – Increases risk of spinal haematoma

4. Cardiorespiratory compromise – May worsen due to the position they need to assume for LP

Other
 Wayne Robinson, MBBS Class of 2015
• Refusal
• Previous lumbar surgery – refer to interventional radiology
EQUIPMENT

1. Lumbar puncture tray with necessary supplies

2. Spinal needle with a stylet – 20 – 22 gauge

o The smaller the needle used for the lumbar puncture, the lower the risk that the patient will
experience a post–lumbar puncture headache

• Length:
a. Infant – 1.5 in
b. Child – 2.5 in
c. Adult – 3.5 in

3. Skin preparation and sterile drapes

• Povidone-iodine (Betadine®)
• Alcohol

4. Sterile gloves

5. Local anaesthesia
• 1% lidocaine with 25 gauge needle (without epinephrine)

6. Collection tubes – (4)

• For viral cultures: Additional tube + cup of ice to place specimen in

7. Manometer

PROCEDURE

1. Obtain informed consent from parent or guardian. MUST INCLUDE EXPLAINING THE RISKS AND
COMPLICATIONS OF MENINGITIS (EXPECTED IN OSCE ALSO)!

2. Perform appropriate history and examination, including FULL NEUROLOGICAL EXAMINATION (with
fundoscopy) to detect any contraindications

3. Position patient. Either lateral recumbent position (or sitting position may be used in adults)

• Lateral recumbent position preferred to obtain an accurate opening pressure and to reduce the risk of post
puncture headache

4. Flex patients neck, hips (and knees) - this position widens the gap between the spinous processes. Need an
assistant to maintain the child in this position

5. Ideally the lumbar spine should be parallel to the table in the lateral recumbent position (perpendicular if sitting) –
these positions help keep the needle at the midline

6. Locate L3-L4 interspace by palpating the right and left posterior superior iliac crests. Make an imaginary line
between the superior aspects of the iliac crests. This intersects the midline at the L4 spinous processes (check if
this is the same in all age groups). Spinal cord ends at L1-L2 vertebral bodies. Desired insertion site: Interspaces
between L3-L4 or L4-L5

7. Palpate the landmarks BEFORE preparing the skin and before administering local anaesthesia since the
anaesthesia may make landmarks harder to identify
 Wayne Robinson, MBBS Class of 2015

8. Use a skin-marking pen (if available) to identify the site of needle insertion. Or make indentation with
fingernail

9. While wearing sterile gloves clean a sufficiently large area of the overlying skin with disinfecting agent such as
chlorhexidine or povidone-iodine (Betadine) using a pattern of widening concentric circles. MUST wipe off
with alcohol after using the Betadine. This is to reduce the risk of a chemical meningitis.

10. Drape the area with sterile drapes

11. Lay out the collection bottles in the order of priority for the diagnostic indications

12. LP is a painful and potentially anxiety provoking procedure. At the very least, the use of a local anaesthetic is
appropriate (used in children > 1 year). Sedation or systemic anaesthesia may be 8required under some
circumstances

• Can apply topical anaesthetic cream before preparing the skin

• Or can inject local anaesthetics subcutaneously after preparing the skin

Spinal Needle insertion:

13. Identify the anatomical landmarks once again and insert the needle with stylet firmly in place in the midline, at
the superior aspect of the inferior spinous process directing it at an angle of approx. 15 degrees (slightly
cephalad), as if aiming at the patients umbilicus

14. Insert the needle in the interspace between L3 and L4 or L4 and L5, since this location is below the termination of
the spinal cord (conus medullaris). Stabilize the spinal needle with the index fingers and advance it with the
thumbs.
o Ensure that the bevel of the needle is in the sagittal plane in order to spreads rather than cut the fibres
of the dural sac. These fibres run parallel to the spinal axis – this needle position should theoretically
decrease the leakage of CSF

15. As the needle passes through the ligamentum flavum may feel a popping sensation. Once you have reached this
point the needle should be advanced in 2 mm increments and the stylet withdrawn after each increment to check
for CSF flow (indicating that you are in the subarachnoid space)

16. If no fluid is detected and bone is encountered, withdraw the needle to the level of subcutaneous tissue without
exiting the skin and redirect the needle
• From a random document: Verify that the puncture site is in the correct location
• If it is, attempt a paramedian approach
• Just a few millimeters later to the midline

17. Fluid will flow once the needle enters the subarachnoid space
• If the LP is traumatic the CSF may be tinged with blood
• As additional fluid accumulates in the barrel, the fluid should become clear unless the source of the
blood is SAH

• If flow is poor, a nerve root may be obstructing the opening of the needle and should rotate the
needle 90 degrees

18. If drops of blood enter the needle it may become clogged

• In this case should obtain a new needle and enter the site through a different interspace

Specimen collection
 Wayne Robinson, MBBS Class of 2015
19. Must allow the CSF to drip into the collection tubes
• NEVER aspirate CSF – even a small amount of negative pressure can precipitate a haemorrhage

• The amount of fluid collected should be limited to the smallest volume necessary for testing.
Typically 3-4 mls (20 drops) is sufficient for routine investigations

20. After collecting an adequate specimen, replace the stylet and remove needle. Place bandage over site.
• Send CSF for analysis for
o Cell count & differential
o Protein & glucose determinations
o Gram stain
o Routine culture
o **Obtain a peripheral serum glucose level immediately before the LP
! To determine the CSF serum ratio of glucose

21. Traditionally, patients have been told to lie flat for several hours after an LP, there is no evidence that this
precaution decreases risk of a CSF leak, post puncture headache or other complications. Medscape advises to
not recommend this based on the absence of evidence to support it.

22. Properly dispose of all sharps in sharp container to minimize the risk of needlestick injury

23. Label and fill out appropriate collection tubes and forms and send CSF for analysis

24. Continue to assess patient for the development of complications of the procedure

Layers

1. Skin
2. Subcutaneous tissue
3. Supraspinous ligament
4. Interspinous ligament between the spinous processes
5. Ligamentum flavum
6. Posterior epidural space
7. Dura
8. Subarachnoid space
9. And between the nerve roots of the cauda equina

OPENING PRESSURE

To obtain an opening CSF pressure

1. Patient must be in the lateral recumbent position

2. Use a flexible connector and attach a manometer to the hub of the spinal needle

3. After waiting for the column of fluid to rise you may take a measurement

4. If the CSF pressure exceeds 25 cm of water, should closely monitor the patient for signs of herniation and
determine the cause of the patients elevated ICP

CHALLENGES

• Obese patients – due to difficulty in identifying landmarks

 Wayne Robinson, MBBS Class of 2015
Others

• Kyphoscolisis
• Previous surgery that has altered landmarks or spaces

Not in paeds age group:

• Osteoarthritis
• Ankylosing spondylitis
• Degenerative disk disease

COMPLICATIONS

1. Traumatic (bloody) tap

2. Dry tap – May occur if patient is dehydrated
3. Pain, local or referred
4. Post-dural puncture headache – Most common complication. Usually self-limited (≤7 days) and responds to
analgesics
5. Bleeding – Rare – Epidural, subdural and subarachnoid haemorrhage
6. Infection – Cellulitis, skin abscesses, epidural abscesses, spinal abscesses
7. Subarachnoid epidermal cyst
8. CSF leakage – more likely with a large bore spinal needle than a smaller bore needle – call anaesthesiologist if
persistent leak to determine if an epidural blood patch is needed to occlude the leak
9. Cerebellar herniation – Most serious complication. Very rare

Can avoid many of these complications by conducting a careful assessment of patient before the procedure, including a
thorough neurologic examination and fundoscopy and monitoring the patient throughout the procedure

A subarachnoid epidermal cyst occurs when a skin plug is introduced into the subarachnoid space. Standard use of a
needle with a stylet will avoid this complication!!!

***NOTE WELL:
• LP should NEVER delay potentially life-saving interventions, such as the administration of antibiotics and
steroids to patients with suspected bacterial meningitis.

• Cranial CT scanning should be obtained before lumbar puncture in all patients with suspected SAH in order to
diagnose obvious intracranial bleeding or any significant intracranial mass effect that might be present in awake
and alert SAH patients with a normal neurologic examination

Complications from random document:

• Local pain or backache

• Post-tap headache
• Vomiting
• Paralysis (low risk)
• Epidermoid tumours
• Subarachnoid epidermal cyst
• Epidural haematomas
• Subdural or subarachnoid haemorrhage
• Spinal cord bleeding
• Acute neurologic / respiratory deterioration
• Hypoxaemia or apnoea
• Cerebral herniation
• Introduction of infection (low risk)
• Ocular muscle palsy (transient)
Wayne Robinson, MBBS Class of 2015
 Wayne Robinson, MBBS Class of 2015
SUPRAPUBIC ASPIRATION
UHWI TICK SHEET ON LAST PAGE
Source: New England Journal of Medicine + Medscape
http://www.nejm.org/doi/full/10.1056/NEJMvcm1209888
http://emedicine.medscape.com/article/82964-overview#a17

OVERVIEW

This summary reviews suprapubic bladder aspiration in children, both with and without the use of ultrasound guidance.
• This procedure is important when neither a clean-catch urine sample nor a specimen from a urethral catheter can
be obtained.

INDICATIONS

Suprapubic bladder aspiration is performed to obtain a sterile urine sample from children =/< 2 years old

1. When the urethra cannot be adequately visualized such as in:

• Girls with labial adhesions or labial edema
• Uncircumcised boys with unretractable foreskin

2. Children with conditions such as severe, protracted diarrhea - may make it difficult to obtain a sterile specimen

3. Multiple unsuccessful attempts to obtain urine through urethral catheterization

4. History of urethral or introital surgery in whom it may be difficult to perform catheterization

CONTRAINDICATIONS

Contraindications to suprapubic bladder aspiration include:

• Age > 2 – Reason: After this, bladder descends and becomes a pelvic structure
Local
• Empty or unidentifiable bladder
• Infections of the abdominal wall,
• Massive organomegaly
Systemic
• Clinically significant bleeding disorders

EQUIPMENT

1. Sterile gloves
2. Sterile drapes or towel
3. Sterile gauze
4. Antiseptic solution – Povidone-iodine (Betadine)
5. Topical anesthetic cream and an adhesive bandage OR Local anaesthetix 1% lidocaine (with or without
epinephrine),
6. 25-gauge 5/8-in. Needle (For anaesthesia)
7. 22-gauge - 23-gauge 1.5-in. Needle (For aspiration)
8. Two sterile 5-ml syringes
9. Sterile specimen container
 Wayne Robinson, MBBS Class of 2015
10. Bandage

Analgesia
Apply the topical anesthetic to the skin 1 to 2 cm superior to the pubic symphysis and cover with an adhesive bandage.
The anesthetic will be most effective if applied approximately 20 to 30 minutes before the procedure begins.

Or can use a subcutaneous injection of lidocaine.

ANATOMY
The bladder lies posterior to the pubic symphysis and anterior to the uterus in girls and anterior to the rectum in boys.

PROCEDURE
The procedure can be performed with or without ultrasound guidance.

Without Ultrasound Guidance

1. Obtain informed consent from parent/guardian

2. Place the child on his or her back, in the frog-leg position. Need assistant positioned at the child's head to
maintain control of the arms and a second assistant to restrain the legs.

3. Localization of the bladder is critical for the procedure. Palpate the pubic symphysis and percuss the bladder 1-2
cm above it prior to procedure. If bladder not percussable, do not perform SPA.

4. Don sterile gloves.

5. Cleanse the child's skin from the umbilicus to the pubic symphysis, using Povidone-iodine solution.
6. Drape the area to avoid contamination.

7. Next, infiltrate the subcutaneous tissues approximately 1 to 2 cm above the pubic symphysis with 1 ml of
lidocaine using the 25-guage needle.

8. Obtain the 22-guage, 1.5-in. needle to perform bladder aspiration. The needle should be placed at an angle that is
perpendicular to the abdominal wall, which means the needle will be approximately 10 to 20 degrees from true
vertical

9. Penetrate the skin and immediately apply negative pressure to the syringe as you advance the needle through the
skin until urine is visible. You may feel a change in resistance as the needle penetrates the bladder wall.

10. If no urine is obtained after the initial attempt, withdraw the needle to the edge of the needle tip, but do not
remove the needle from the skin. Then change the angle of needle entry so that the needle tip is more caudad. The
needle should be oriented in a true vertical position.

11. Once you have collected sufficient urine in the syringe, immediately transfer the urine to a sterile container.

Attempt 1 Attempt 2
 Wayne Robinson, MBBS Class of 2015

With Ultrasound Guidance

Ultrasonography is increasingly used for diagnostic and procedural guidance.
• The use of ultrasonography to assess bladder volume and to guide aspiration can increase the likelihood that the
procedure will be successful.
• The most common reason for failing to obtain urine with suprapubic bladder aspiration is a lack of sufficient urine
in the bladder, which may be the case if the child has urinated within the past hour or if the child is dehydrated.
• Performing ultrasonographic evaluation of the bladder to ensure an adequate urine volume before attempting the
procedure can increase the likelihood that urine will be obtained.

COMPLICATIONS
Complications of suprapubic bladder aspiration are rare. They include:

1. Failure to aspirate urine

2. Haematuria – Microscopic more common. Gross hematuria uncommon
3. Infection:
a. Cellulitis of the abdominal wall
b. Cystitis
4. Perforation of the bowel - May occur when a loop of bowel overlies the bladder.
• The use of ultrasound guidance decreases the likelihood of bowel perforation.
• If you suspect bowel perforation, withdraw the needle and reattempt the procedure with a fresh needle
and syringe. Intestinal penetration is usually not clinically significant and generally requires no follow-up.

SUMMARY

Knowing how to perform suprapubic bladder aspiration is important for clinicians who care for children who are not
toilet-trained or who are unable to provide a clean-catch urine specimen. When a sterile urine specimen from a patient is
required and the performance of urethral catheterization is difficult or unfeasible, suprapubic bladder aspiration is the next
preferred method.
 Wayne Robinson, Class of 2015
PEAK EXPIRATORY FLOW RATE (PEFR) MONITORING
Sources: Medscape, Wikipedia

GENERAL BACKGROUND

Peak expiratory flow rate (PEFR) is the maximum flow rate generated during a forceful exhalation, starting from full
lung inflation. Peak flow rate primarily reflects large airway flow and depends on the voluntary effort and muscular
strength of the patient.

Maximal airflow occurs during the effort-dependent portion of the expiratory maneuver, so low values may be caused by
a less than maximal effort rather than by airway obstruction. Nevertheless, the ease of measuring peak flow rate with
an inexpensive small portable device has made it popular as a means of following the degree of airway obstruction in
patients with asthma and other pulmonary conditions.

NOTE WELL: FEV1 and PEFR are different!!

• Forced expiratory volume over 1 second (FEV1) is a dynamic measure of flow used in formal spirometry. It represents
a truer indication of airway obstruction than does peak flow rate. Although peak flow rate usually correlates well with
FEV1, this correlation decreases in patients with asthma as airflow diminishes.

NOTE WELL: Peak flow rate monitoring can be accurately performed by most patients older than 5 years

The most frequent use of peak flow rate measurement is in home monitoring of asthma, where it can be beneficial in patients for
both short- and long-term monitoring.

Peak flow rate measurement can provide the patient and the clinician with objective data upon which to base therapeutic
decisions.

There are conflicting data regarding the efficacy of peak flow rate monitoring for improving asthma outcome. Most studies have
shown a benefit when peak flow rate monitoring is linked to a comprehensive program, combined with symptom diaries and
patient education

In 2007, an expert panel of the National Asthma Education and Prevention Program recommended periodic assessment of
pulmonary function by spirometry or peak flow rate monitoring. If peak flow rate monitoring is used, a written asthma
action plan should use the patient’s personal best peak flow, rather than published norms, as a reference value.

The panel recommended consideration of long-term daily peak flow rate monitoring or home peak flow rate assessment
during exacerbations for patients with the following:
• Moderate or severe persistent asthma
• History of severe exacerbations
• Poor perception of airflow obstruction and worsening asthma
• Preference for peak flow rate monitoring rather than the use of a symptom-based asthma action plan

In managing chronic asthma, long-term daily peak flow rate monitoring may assist with the following measures:
• Detecting early changes in asthma that may require therapy
• Evaluating responsiveness to changes in therapy
• Giving a quantitative measurement of improvement
• Identifying temporal relationships between environmental and occupational exposures and bronchospasm

Use of peak flow rate during acute asthma exacerbations is controversial. The 2007 Expert Panel report suggested that
measuring peak flow rate in acute asthma episodes helps to determine the severity of exacerbations and assists in
guiding therapeutic decisions in the home, school, practitioner’s office, and emergency department. However, Eid et al
have reported that peak flow rate measurement is unreliable for the classification of asthma severity

Compliance with peak flow rate monitoring is limited by the difficulty that patients and their caregivers often have with
keeping records. Compliance with monitoring is also low for adults.
 Wayne Robinson, Class of 2015

Key Considerations
Since peak flow rate measurement depends significantly on patient effort and technique, clear instructions,
demonstrations, and frequent review of technique are essential.

• Due to diurnal variation, peak flow rate should be measured at the same time every day. Peak flow rate
declines linearly throughout gestation in pregnancy, especially when it is measured in the supine position

(The predicted peak flow rate values for African American and Hispanic patients are 10% lower than reflected in most tables)

INDICATIONS

NOT to diagnose asthma

PEFR classically reduced in obstructive lung disorders such as asthma.

Indications for peak flow rate measurement are as follows:

1. Monitoring of asthma
2. Monitoring of chronic obstructive pulmonary disease
3. Monitoring effects of ozone and other air pollutants on respiratory function

CONTRAINDICATIONS

• No contraindications exist

COMPLICATIONS

• No complications are reported

TECHNIQUE
Peak flow rate measurement depends significantly on patient effort and technique. Therefore, clear instructions,
demonstrations, and frequent review of technique are essential.

1. First measure of precaution would be to examine patient for signs and symptoms of asthmatic
hypervolemia. This would indicate whether or not to even continue with the Peak Flow Meter procedure.

2. Move indicator to the lowest end of the numbered scale/zero. For some devices, this requires vigorous shaking. If
the device has a separate mouthpiece, it must now be attached.

3. While standing in an upright position (with back against a wall), the patient takes a deep inhalation

4. The mouthpiece of the device is placed in the patient’s mouth with lips firmly closed around it (The tongue should
not be placed in the front hole). Patient holds the device horizontally and keeps fingers away from pointer.

5. The patient blows out as forcefully and rapidly as possibly in a single exhalation (MUST demonstrate to patient!!
Can also say “blow like superman” etc.)

6. Look at the pointer, check and record the reading

7. These steps are repeated 2 more times. If the patient coughs or does not perform the technique correctly, the turn
is ignored and repeated. The highest number from the 3 attempts is recorded by the patient.

8. Information about medications, symptoms, and any unusual activities should also be recorded.

When peak flow is being monitored regularly, the results may be recorded on a peak flow chart.
 Wayne Robinson, Class of 2015
It is important to use the same peak flow meter every time.

Measurement of PEFR requires training to correctly use a meter and the normal expected value depends on a patient's
sex, age and height.

Formulae for predicted peak flow rate vary across the literature. The patient’s personal best peak flow (as described
below) may be used as a reference; population-based equations may also be used

Peak flow readings are often classified into 3 zones of measurement according to the American Lung Association;
green, yellow, and red. Doctors and health practitioners can develop an asthma management plan based on the green-
yellow-red zones.

Zone Reading Description

Green 80 to 100% of the usual or A peak flow reading in the green zone indicates that the asthma is under
Zone normal peak flow readings = good control.
CLEAR

Yellow 50 to 79% of the usual or Indicates caution. It may mean respiratory airways are narrowing and
Zone normal peak flow readings = additional medication may be required.
CAUTION
Patient should implement the treatment plan decided upon with the
clinician to reverse airway narrowing and regain control.

Red < 50% of the usual or normal Indicates a medical emergency. Severe airway narrowing may be
Zone peak flow readings = occurring and immediate action needs to be taken.
MEDICAL ALERT
Bronchodilator therapy should be started immediately, and the clinician
should be contacted if PEFR measures do not return immediately to the
yellow or green zones

Personal Best Peak Flow Rate

The patient’s individual personal best peak flow rate must be reevaluated to account for both growth and disease
progression. Peak flow rate measurement should be periodically correlated with office spirometry

The patient is instructed to identify his or her personal best peak expiratory flow by recording the highest number
achieved within 2 weeks when he or she feels relatively well without respiratory symptoms

Details of measurement are as follows:

• Peak flow rate is measured at least twice a day for 2-3 weeks
• Peak flow rate should be measured upon awakening and in the late afternoon or early evening
• Peak flow rate should be measured 15-20 minutes after use of an inhaled short-acting beta2 -agonist

After the personal best peak flow rate is obtained, the patient’s healthcare provider may include this information in an
asthma action plan to direct the patient’s self-management.

• In general, a peak flow rate of less than 80% of the patient’s personal best should trigger the
administration of an inhaled short-acting beta2 -agonist.

• A peak flow rate of less than 50% of the patient’s personal best should trigger both administration
of an inhaled short-acting beta2 -agonist and immediate medical attention.
 Using a Spacer
For asthma medications to be maximally efficacious, they must be taken correctly. Therefore it is necessary
to inform both the parent and child (in language which they understand) how to take the medications
properly. A spacer is a valved chamber used as a device to increase the amount of asthma medications
inhaled by the child when in distress. Although they can be purchased, spacers may also be created cheaply
using 2 Styrofoam cups with the rims taped together, and a small hole at either end for the child’s mouth
and the metered-dose inhaler (MDI) respectively.

Overuse of the metered-dose inhaler can be used as an estimate of the severity of the child’s asthmatic
episodes. Using ≥ 1 MDI canister /month or ≥ 8 puffs/day suggests poor asthmatic control. However, this
estimate is affected by the efficiency with which the medication reaches its target – the lower respiratory
tract. In other words, if the patient is not inhaling effectively, then more “puffs” will be needed to relieve
symptoms, and the MDI canister will be used more quickly.

Medications for Children aged ≤ 5 years:

Acute Intermittent Mild Moderate Severe

Exacerbation Persistent Persistent Persistent
Short-acting β2 agonist
eg. salbuterol √ - - - -
(0.15mg/kg)
Long-acting β2 agonist
eg. salmeterol, - - - √ √
formoterol
Corticosteroids √ - √ √ √
(1-2mg/kg/day)
Anti-cholinergics eg.
ipratropium bromide √ - - - -
(0.25-0.5mg)

Medications for Children aged ≥ 5 years:

Acute Intermittent Mild Moderate Severe

Exacerbation Persistent Persistent Persistent
Short-acting β2 agonist
eg. salbuterol √ - - - -
(0.15mg/kg)
Long-acting β2 agonist eg.
salmeterol, formoterol - - - √ √
√ - √ √ √
Anti-cholinergics eg.
ipratropium bromide √ - - - -
(0.25-0.5mg)

Created by Olivia McKinney 1

April, 2009
Demonstration of Skills Checklist:
Instructions: You are asked to demonstrate the use of the spacer and inhaler in a four year old child.

Adequate Inadequate/
Not done

Discuss indication for use with the patient/parent (1) (0)

Discuss side effects of medication/s to be used (1) (0)

Demonstrate use of the inhaler with a spacer:

Shake the inhaler & attach it to spacer (1) (0)
Expire maximally (1) (0)
Purse the lips on the mouth piece forming a tight seal (1) (0)
Press the metered-dose inhaler once (1) (0)
Inspire deeply (1) (0)
Advise about whistle if breathing too fast (1) (0)
Hold the breath for 5-10 seconds (1) (0)
Exhale slowly and repeat breathing 5-10 breaths (1) (0)
Repeat pressing the MDI and breathing if still
symptomatic after one minute (1) (0)
Rinse mouth after exercise (1) (0)

Demonstrate cleaning of apparatus (1) (0)

Demonstrate how to check if MDI contains medication (1) (0)

Overall impression of candidate’s performance Excellent V. good Good Avg. Boderline Poor Fail
6 5 4 3 2 1 0

Total Marks= 20
Min Competence= 13

Reference: Kliegman RM, Marcdante KJ, Jenson HB, Behrman RE, Nelson Essentials of
Pediatrics, 5th ed, Elsevier Inc, 2006

Created by Olivia McKinney 2

April, 2009
 Arterial Blood Sampling

Assess indications and explain procedure to patient/family.

Indications

1. Assess the ventilator status, oxygenation and acid base status

a. Partial pressures of oxygen (PaO2) – assesses oxygenation

Hypoxia would be caused by ventilation/ perfusion mismatch,

hypoventilation, abnormal diffusion and right to left cardiac shunts

b. Partial Pressure of carbon dioxide (PaCO2) – assesses ventilator efficiency

or alveolar ventilation

Low PCO2 = hyperventilation

High PCO2 = hypoventilation

c. pH of arterial blood - assesses acid-base balance

Normal pH = 7.35 – 7.45

2. Inability to obtain venous sample.

3. Assess the response to an intervention.

NB: PaO2, PaCO2, and pH are important in assessing pulmonary function, since
these data indicate the status of gas exchange between the lungs and the blood. PaO2
may often be obtained by pulse ox.

Information Obtained from an ABG

1. Acid Base Status

2. Oxygenation
a. Dissolved O2 (pO2)
b. Saturation of Hb
3. CO2 elimination
4. Levels of carboxyhaemoglbin and methemoglobin

Contraindications

1. Cellulitis or other infections over the radial artery

2. Absence of palpable radial artery pulse
3. Positive Allen test (see below), indicating that only one artery supplies the hand
4. Coagulation defects (relative)
5. AV Fistula as for dialysis
 6. Severe Peripheral Vascular Disease

Allen Test

1. Purpose: It is very important to perform Allen Test to confirm the patency of the
ulnar artery, because in case there is no collateral flow through the ulnar artery,
radial artery puncture is contraindicated since it can result in a gangrenous finger
or loss of the hand from spasm or clotting of the radial artery.
2. Procedure:
a. The patient sits with their hands supinated on their knees.
b. Stand at the patient's side with your fingers around their wrist; compress
the tissue over both radial and ulnar arteries.
c. Allow a few minutes for the blood to drain from the hand while the patient
opens and closes her hands several times.
d. Release the pressure on the ulnar artery while keeping the radial artery
occluded. normal skin color should return to the ulnar side of the palm in
1-2 seconds, followed by quick restoration of normal color to the entire
palm.
3. Positive Result: A hand that remains white indicates either absence or occlusion
of the ulnar artery, and radial artery puncture is contraindicated.

Anatomical Review

The radial artery runs along the lateral aspect of the volar forearm deep to the superficial
fascia. The artery runs between the styloid process of the radius and the flexor carpi
radialis tendon. The point of maximum pulsation of the radial artery can usually be
palpated just proximal to the wrist.

Which Artery to Choose?

1. The radial artery is superficial, has collaterals and is easily compressed, therefore
is normally the 1st choice.
2. Other arteries that are commonly used
a. femoral
b. dorsalis pedis
c. brachial

Necessary Equipment

1. Materials for skin cleansing (Alcohol and cotton)

2. Syringe with 3 to 5 mL of Lidocaine 1% and a 23- to 25-gauge needle.
3. Preheparinised 3 to 5 mL syringe with 23 to 25 gauge needle. To heparinize the
syringe, aspirate 0.5 mL of heparin into the syringe, hold the syringe upright, pull
 the plunger all the way out to the end, and then return all of the heparin to the
original container. This can be done with butterfly wings.
4. Gloves
5. Ice for transport.

Procedure

1. Wash your hands and put on disposable gloves.

2. Prepare the site
a. Drape the bed
b. Cleanse the radial area with alcohol
3. Position the wrist (hyper-extended, using a rolled up towel if necessary).
4. Palpate the arterial pulse and visualize the course of the artery.
5. Anesthetize the skin over the proposed site of puncture with 1% lidocaine 3 to 5
mL
6. Identify again the point of maximal pulsation of the radial artery.
7. With your dominant hand hold the syringe and needle puncture (preheparinised)
and insert the needle into the anesthetized area at 45 degrees to the skin with
needle's bevel uppermost.
8. Guide the needle slowly toward the point of maximum pulsation. When you hit
the artery there will be a sudden gush of arterial blood into the hub of the needle.
Then you need to make a small amount of suction to obtain an adequate blood
sample (only 1-2 mL). If no blood is obtained with these maneuvers, withdraw the
needle to a position just under the skin and try again. Once you have taken blood
sample remove the needle from the artery and apply direct pressure over the site
for 5 minutes.
9. Expel all air bubbles from the sample holding the syringe upright and allowing
the bubbles to collect near the needle hub. Then evacuate it by pushing on the
plunger.
10. Protect needle. Gently mix the specimen by rolling it between your palms.
11. Label the specimen with patient's name and hospital number.
12. Place the sample in the bag containing ice and send it to the lab.

NB: It is very important to return about 20 minutes later to check for adequate perfusion
of the hand and for possible haematoma formation.

Complications

1. Haematoma
a. Prevention: Assessing the likelihood of bleeding.
b. Management: Adequate pressure.
2. Infection
a. Prevention: Aseptic Technique
3. Tendon or Nerve Damage
a. Appropriate positioning
 Asthma Technical Station
Peak Flow Meter:
Description:
o This is a Peak flow meter
o Its components include:
Mouth piece – in which the patient
blows into
A graduated scale with an indicator
which moves on introduction of air
into the device
Handle – for which the patient holds
(some devices do not have a handle
Indications: Peak flow meters may be used in children > 5 years who are ASTHMATIC. It
is used to:
1. Obtain a baseline peak flow reading which is important in the management of
the asthmatic
2. Measure the degree of obstruction during an attack
3. To monitor response to bronchodilator therapy
Contraindications: None ?
Procedure:
o You should give clear instructions on how to use the device
o Ensure that the patient is standing upright, with the head straight forward and
not bending the neck forward. They also should be standing against the wall
with their feet together
o The scale must be zeroed before handing the device to the patient
o The device should be held by the handle if present, or anywhere on the device
once it does not obstruct the movement of the indicator.
o Patient must take a deep inspiration
o Then place the mouth over the mouthpiece
creating a tight seal. Remind the patient not
to put their tongue in the way.
o Then they should blow out as hard and fast as
possible
o Check the reading and repeat 2 more times
o Take the highest of the 3 readings
What results should be expected?
o Normal peak flow readings are based on patient’s height wieght and age
o Green zone is 80-100% patient’s personal best
o Yellow zone is 60-80%
o Red zone is <60%
Spacer:
Description:
o This is a spacer
o It is a cylindrical chamber with an
opening for the insertion of a
Metered dose inhaler and another
opening on the opposite side with
a mouth piece/ facemask
Indications:
o Main use is for the administration
of inhaled medications in the management of asthma and other respiratory
diseases
Benefits:
o Allows for more effective administration of medication into the lungs
o Minimises wastage of medication at the back of the throat
o Reduces the risk of Oral Candidiasis with the use of corticosteroid inhalers
o Easy to use, and therefore more suitable for younger children who cannot
cooperate with the controlled breathing needed for use of the MDI without
spacer
Prodedure
o Shake the MDI
o Remove the cap and attach the mouthpiece of
the MDI to the spacer
o Then remove cap the mouthpiece from the
other end of the spacer/Attach the face mask to
the opposite end of the spacer
o Place mouth over the mouth piece fully, creating a seal/ Ensure the facemask
covers the patient nose and mouth, creating a tight seal
o Allow the patient to breathe normally for 10 breaths (if counting breaths is
difficult let them breahte for 10 sec
o Repeat procedure if repeated doses are needed
o Disasssemble devie and rinse in water and soap to clean the spacer, then turn
upsie down and allow to dry.
o Recap the MDI
How to know when to replace the MDI
o Place the cannister in a container with water
o If it floats it is empty
o If it completely sinks, it is full
o If is in any other configuration it should be
replaced soon
o **Another way to know
Each inhaler has the # of doses on it, the patient can count the doses
so they know when its finished
Nebulisation
Components of the Nebuliser:
o Facemask (good fitting mask)
o Nebulising chamber
o Tubing
o Nebuliser compressor machine or compressed O2 /air
Indications:
o It is used when there is a large dose of inhaled
medication to be given and the patient is not able to
cooperate with using the other method
o Relief of bronchial narrowing and airway
inflammationas seen in patients with bronchial
asthma
PEFR 60-80% predicted (Moderate severity)
PEFR <60% (Severe)
o In patients wuth viscous/retained secretions such as those with cystic
fibrosis
o …
Contraindications:
o Allergies to the drugs used
Procedure:
o Gather all the eqipments required (as mentioned above)
o Weigh the patient
o Measure peak flow
o Take dose of ventolin at 0.01-0.03mg/kg
o Take Normal saline at a ratio of 3:1
o If Ipatroprium bromide (Atrovent) is needed : 125-250mcg (if <12years) per
dose (0.125-0.25mg)
Consider Ipatropium Bromide in moderate severity.
Definitely use it in Severe asthma (Caribbean Asthma guidelines)
o Inject the medication into the chamber and close it, then assemble all the
parts (Usually you are asked to do it)
o Place the facemask on the patient and allow them to sit down?
o Connect the tubing to the air compresser, and turn the switch on
o Allow the dose to run for 15-20 mins
o Repeat the dose 2 more times
o Then reassess patient for the need of another cycle (By examination, O2 sat
and repeat peak flow after the 3rd dose)
Patient not responding?
o Must recheck your equipment – Something may not be correct
o Need to recheck the doses
o May be a misdianosis – MUST CHECK FOR SPONTANEOUS PNEUMOTHORAX
 Breastfeeding Conselling

Hi good day, My name is __________________ a final year medical student, what is your name?
Nice to meet you. Do you mind if we have a short conversation about why you came
today? Thank you

What brought you to the hospital today? OR What are your concerns with breastfeeding?
(They will say they want some information on breastfeeding) (Note that it may just be
about benefits of breastfeeding)

Firstly can you tell me what you know about breastfeeding? /your concern? (They will say
they know nothing) (The session should start based on any concerns they have. This
template is based on if they had no specific concerns.)

Why breastfeeding is important!!

Breast milk is thought to be the BEST feed for infants. It is reccommended that an
infant is breastfed exclusively (meaning, he/she ONLY gets breast) up to 6 months
of life. After this, you should continue breastfeeding, but also you want to add
other foods to the diet at that time, and breastmilk should be for at least 2 years of
life.
There are a number of benefits that you can receive from breastfeeding your child;
Some of the benefits are for you and some are for the baby:

Maternal Baby
Faster healing after delivery Breastmilk contains the perfect
(helps the womb to go back to mixture of vitamins and minerals
normal size faster, and you have that the baby needs to grow,
a smaller chance of bleeding out The formula has the nutrients he/she
after delivery) needs as well, but the baby’s body
absorbs the breastmilk easier
Helps you to lose weight Less likely to have allergies
Allows for better bonding with Less likely to have infections
you and baby (diarrhoea, ear infections, flu, lung
infection)
When your body gets exposed to
infections, you are able to fight them
 off because your body creates a
natural defense. When you
breastfeed, those will go across to the
baby
Protect you against certain The baby can take just as much as
cancers in the future, such as he/she needs and stop drinking, so
breast and ovarian cancer the chances of him/her becoming
overweight is lower than with
formula fed babes.
It is much more affordable Long term prevention against some
chronic diseases [like type 1
diabetes, coeliac dx, chrons dx]
It doesn’t require any
preparation and is ready on
demand
Breastfeeding also increases the
time that you will be without
periods, and therefore you will
have a smaller chance of getting
pregnant while breastfeeding
Also some women get depressed
after delivering a baby, and
breastfeeding your infant
reduces your chances of having
that

**Can establish some rapport here**: “You see, it don’t sound too bad, right?”

So now we’re gonna talk about how to breastfeed. I’m sure you already have a good idea
how to, but we will just quickly go over it. If you are a first time mother, it may be a bit
challenging at the beginning, but you will get better at it once you keep trying.

First things first, is that you have to make sure that you are RELAXED, and in a
comfortable position, and this is somewhere where you can be happy and not stressed
out.

You can choose to hold the baby in 1 of 4 positions, whichever makes you and the baby
comfortable:
*Describe each hold for mother – If a doll is available try demonstrating

Once you have chosen the hold that you want, you should let your nipple touch the side of
the babys mouth so that the baby will turn his head to suck the nipple. Hold the breast
with the thumb and index finger around the dark park of the breast aroung the nipple
(areola) like a ‘C’. When you are putting the nipple in the mouth, you should ensure that
the baby opens his mouth very wide, so that his mouth is covering most of the darkened
part of the breast around the nipple (areola), especially on the bottom part of the breast

This is very important, because this is how the baby will get a good latch on the breast,
and if he can latch on good, then he will get the milk to flow better, and there will also be
less pain for you.

The baby should suck for at least 15 mins on each breast, making it a total of 30 minutes.
This is important because the first part of the milk that comes out has lots of water to
keep baby hydrated, and the later part of the milk has most of the calories that will give
the baby his/her energy. You can do it as often as the baby wants, but if you prefer to time
it, you can feed as often as every 2-3 hours.

With breastfeeding it may be a little difficult to know exactly how much milk the baby is
getting, but certain things can clue you in and let you know that the baby is getting
enough:
Breast feels full before feeds and is leaky
After feeds breast feels empty
Baby falls asleep like his belly is full after the feed
Baby should be passing stool 6-8 times a day (however some breastfed babies do
not have stools that often)
 And passing urine 4-6 times per day*

ARE YOU UNDERSTANDING SO FAR?

Now we will speak about some of the things that can go wrong with breastfeeding and
what you can do about them:

Low milk supply

Cracked nipples:

Mastitis:

Engorged Breast:

Reassurance :::

Thank you for allowing me to talk to you!

Women who cannot breastfeed:

Illicit drugs
Alcohol abuse
Galactosaemia
(HIV) or
HTLV-1 or II and have
Active untreated TB
Varicella
Active herpes simplex virus with breast lesions
 Febrile Seizure Counselling
Introduction:
Hi my name is ___________ I’m a final year medical student. What’s your
name? I was informed that you are here to find out about the episode
your child experienced. Is it ok if I talk to you about it? Thank you.
Understanding:
Tell me what you understand about Febrile seizures
Explanation:
I understand that the episode may have been frightening for you, but
before I begin to explain, I would like to reassure you that febrile seizures
are a very common occurrence among children.
A seizure is an episode that occurs as a result of abnormal brain activity.
This usually results in the entire body shaking or jerking uncontrollably.
Many things can cause seizures, but what caused the seizure in your child
is the high fever.
It is quite common for this to occur in children especially between the
ages of 6 months and 5 years
Also, it is more common in children because they contract illnesses, such
as the cold, ear infections, throat infections, which give them the high
fever.
The cause of it is unknown but some think it occurs because when you
have a fever, you have the release of certain substances in the body to
help fight the fever and these substances travel to the brain and can cause
it to have the abnormal activity.
If someone in the family has it then he/she is at a higher risk.
The child usually presents with shaking for a short period of time and
usually only 1 episode occurs in a 24 hour period. IF more than 1 happens
in 24 hours, it is more complex.
Usually we don’t do any tests to make the diagnosis
DO YOU UNDERSTAND SO FAR?
The main aim of management is to control the fever, and this may be done
via
o Panadol
o Tepid sponging with room temperature water (No ice is needed or
rubbing alcohol)
Once the fever is controlled, the seizures should not happen again,
therefore what you can do to prevent this from happening again, is as
soon as you feel that he/she has a high temperature, you can begin the
sponging and panadol so that it can go back down.
What to do if it happens again:
I would like to end our discussion by telling you about what to do when
you’re at home, in the event this happens again.
 You should remain calm, and turn him/her over on their side.
Remove any objects away from him that may cause him harm while he is
having the fit
Ensure that you do not put anything in his mouth
Also you should try to note the time it started, and time the episode. If it is
happening for more than 5 minutes (10-15 minutes)*, you should take
him/her to the hospital.

Reassurance:
Because your child had a seizure, that does not mean that he has a seizure
disorder, but I must inform you that because he/she has had a febrile
seizure, so therefore he/she will not have to be placed on long term
medication. However, theres a chance of the episode happening again
during another illness where there is a fever. (40% chance after 1 st
episode 60% after 2nd episode)
o Things that increase the childs risk for having another episode
Young age at 1st episode
Relatively low fever causing 1st episode
Close relative (1st degree) who had febrile seizures
The chances of your child developing a seizure disorder is only 2-4%
which is only slightly higher than persons who never had a febrile seizure.
Also, this episode does not cause permanent brain damage, and your child
will develop normally for his/her age.

Do you understand?
Can you please tell me a summary of what you understand from our
discussion?
Thank the patient!
Basic Life Support (BLS): Pediatric Algorithm
1. Check responsiveness; if none, follow steps below

Activate emergency response system

Get automated external defibrillator (AED)
2. Check pulse for < 10 seconds; if no pulse, follow steps below

If alone, start high-quality cardiopulmonary resuscitation (CPR) at a compressions-to-breaths ratio of 30:2

If not alone, start high-quality CPR at a compressions-to-breaths ratio of 15:2
Every 2 minutes, check pulse, check rhythm, and switch compressors
In infants, start CPR if heart rate (HR) < 60 bpm and poor perfusion despite adequate oxygen and ventilation
High-quality CPR and changing rescuers every 2 minutes improves a victim’s chance of survival
3. Attach AED as soon as available (for child); if shockable rhythm, defibrillate and then immediately start CPR

Compressions in children aged 1 year to adolescence

Check pulse at carotid artery

Compression landmarks: lower half of sternum between the nipples
Compression method: heel of one hand, other hand on top if needed
Depth: At least one-third anteroposterior (AP) chest diameter
Depth: At least 2 inches (5 cm)
Allow complete chest recoil after each compression
Compression rate: At least 100/min
Compressions-to-ventilations ratio: 30:2 if single rescuer, 15:2 if multiple rescuers
Continuous compressions if advanced airway present
Rotate compressor every 2 minutes
Minimize interruptions in compressions to < 10 seconds
Avoid excessive ventilation
Compressions in infants (< 1 year)
See the list below:

Check pulse at brachial artery

Compression landmarks: Lower half of sternum between the nipples
Compression method: Two fingers or thumb-encircling if multiple providers
Depth: At least one-third AP chest diameter
Depth: At least 1.5 inches (4 cm)
Allow complete chest recoil after each compression
Compression rate: At least 100/min
Compressions-to-ventilations ratio: 30:2 if single rescuer, 15:2 if multiple rescuers
Continuous compressions if advanced airway present
Rotate compressor every 2 minutes
Minimize interruptions in compressions to < 10 seconds
Avoid excessive ventilation
Airway
See the list below:

Children: Head tilted, chin lifted

Infants: Sniffing position
Jaw thrust if trauma suspected (children and infants)
Breathing
See the list below:

Ventilation with advanced airway every 6-8 seconds asynchronous with compressions
Rescue breathing every 3-5 seconds
Deliver at about 1 second/breath
Watch for visible chest rise
Defibrillation
See the list below:
In children, attach and use AED as soon as available
In infants, there are currently no defibrillation recommendations
Minimize interruptions in chest compressions before and after shock
Resume CPR beginning with compressions immediately after each shock
In children, use dose attenuator, if available; otherwise, adult pads may be used
History for SOB

Introduction
Name of historian
Relationship to patient
Name of patient
Age of patient

PC: SOB x ?
Associated symptoms x ?

HPC:
Any chronic illness?
Cardiac, resp. Whether family or personal history

What was happening with patient exactly?

Was the SOB sudden or gradual?
What were the precipitating events? (was the small patient playing with small toys)
Rest/Excursion?
Is this the first time?
Description of SOB
o Any signs of respiratory distress - Any flaring of the nose? Neck muscles tighten? Ribs
sticking out?
o Are there any features of cyanosis? (Blue lips, blue fingers) is it peripheral or central

What makes it better or worse?

(squatting may help cardiac lesions, bronchodilators would help resp cause but not cardiac, sitting
forward would help epiglottitis)

Does the patient have a fever? (r/o infection)

In children, fever associated with dyspnea usually implies an infectious cause, such as pneumonia,
croup, or bronchiolitis

Immunizations
Recent travel

? Cardiac cause
Associated anemia – lethargy, heart racing
Heart failure - SOB on feeding or activity, swelling of limbs

? Respiratory cause
Any cough (describe character), runny nose, sneeze, hoarseness, sore throat
Chest pain - Pleuritic chest pain could be caused by pericarditis, pneumonia, pulmonary embolism,
pneumothorax, or pleuritis.

?Anaphylaxis / Drug reaction

Any history of drug intake?
Is he allergic to anything – has he had a recent exposure? Any rash etc

?Aspiration
 Difficulty swallowing or frequent vomiting, may indicate gastroesophageal reflux or aspiration

Ask about exposure to secondhand smoke

Other aspects of hx as normal

In children, the most common causes of acute dyspnea are acute asthma, pulmonary infections, and
upper airway obstruction. Some conditions associated with dyspnea, such as epiglottitis, croup,
myocarditis, asthma, and diabetic ketoacidosis, are serious and may be fatal. In children, always consider
foreign body aspiration, croup, and bronchiolitis caused by respiratory syncytial virus

TABLE 3
Clues to the Diagnosis of Dyspnea
SYMPTOMS OR FEATURES IN THE
HISTORY POSSIBLE DIAGNOSIS

Cough Asthma, pneumonia

Severe sore throat Epiglottitis

Pleuritic chest pain Pericarditis, pulmonary embolism, pneumothorax, pneumonia

Orthopnea, nocturnal paroxysmal Congestive heart failure

dyspnea, edema

Tobacco use Chronic obstructive pulmonary disease, congestive heart

failure, pulmonary embolism

Indigestion, dysphagia Gastroesophageal reflux disease, aspiration

Barking cough Croup

Taking the history of a Sickle Cell Disease patient

Demographics

PC: routine follow up

HPC:
Any other chronic illnesses
What kind of SCD do you have?
What age were you diagnosed
How were you diagnosed?
On any current meds? For how long?
Where are you followed up? How often?
Immunization status
Any special tests done? TCD screening, ophthalmology screening
What is steady state HB?
Any history of complications? What? When? How frequently this occurred? Any triggers?
Any hospital/ICU admissions
Any need for blood tranfusions?

(adolescent) How do you feel about your illness? In what ways do you feel limited?

Any participation in sports?

Sickle Cell Counseling

This patient has just presented with a complication of SCD and a diagnosis of HbSS has been made. Counsel
this mother about the disease.

Hi, Good morning. My name is __________ and I’m a final year medical student. I was told about your
situation and I would like to talk with you some more about it. Would that be okay?

Great. What’s your name?

Okay. Well you know you brought your child in because _______ and ________. Our team performed some
tests and we have found that your child has sickle cell disease. Do you know anything about sickle cell
disease? (Did you know you had the trait?)

Sickle cell disease is a common disease that affects the blood cells. The cells in this disease are shaped
different from the normal cells in certain conditions. This disease is genetic, meaning passed down in
families, and people can either have the trait or the full disease. Trait just meaning that some of the genes
are there but not all of them. So although you and your partner may not have had the disease, your child
would have gotten genes from both of you and when two people with the trait have a child there is a 1/4
chance that the baby will have the disease.

I know that was a lot, are you following what I’m saying?

So because this is a “genetic” disease, it means other children you have with this partner may also have
the disease BUT that’s only a 1/4 chance again. There’s an equal chance that the child will be completely
normal, no disease or trait and a 50% chance that the child will have the trait.

Okay right.

So I mentioned earlier that the cells will be shaped different under certain conditions. These are called
triggers, for example, if the child is not drinking enough, or is out in the hot sun too long, or gets too cold,
we can get what we call a ‘crisis’

Because the cells are shaped differently the vessels/veins (and arteries? Lol) they run through can
become almost clogged up. And this can cause the child to be in a lot of pain. If this gets clogged up in one
of the organs in the belly then the child’s belly can swell up. And because it is a problem with the blood
cells and we need blood everywhere around the body then this disease can cause a lot of problems.

A lot of people have this disease and are able to live basically a normal life so it’s not anything that is
impossible to manage. Your child will just need a little more care than the next child.

First big thing with children with the disease is that they tend to get sick more often than other children.
This is because when the blood pools up in one of the organs in the belly it can cause it to not function
well and eventually shrink and disappear. This organ usually helps to fight germs and infection so if it
isn’t working as well the child can get sick.

BUT there’s a way we can lower the chance of that happening. The government provides special vaccines
for children with sickle cell disease. These can help to prevent the infection in the child. Also from the
child is 4 months of age we can give some medication once a month to help with the prevention.
Because your child is more likely to get infections than another child, I want you to bring him to the
hospital whenever you notice he has a fever that wont go away. Also if you see any swelling of the hands
or the belly bring him in. The hands and feet are usually the first thing you might see swell up. Any signs
of headache or vomiting please bring him in as soon as possible.

We actually have an entire unit dedicated to people with this disease so more information that you need
on anything would be available there and any questions you might have for me I’ll try my best to answer.

Like I said earlier there are a lot of people with this disease who live completely normally, there are just
certain things we need to watch out for and take care of if they happen. So don’t worry too much about
it… etc

Any questions?
Lumbar Puncture

Lumbar puncture is a procedure that is performed to obtain CSF for diagnostic and therapeutic
reasons.

Indications

Diagnostic

1. Suspected meningitis
2. Subarachnoid haemorrhage (evaluate CSF for RBC and xanthochromia)
3. Central nervous system abnormalities such as Guillian Barre
Syndrome(Albuminocytological dissociation) and carcinamatous meningitis
4. Idiopathic Intracranial Hypertension(Raised intracranial pressure with manometer)

Therapeutic

1. Idiopathic Intracranial Pressure

2. Administration of Intrathecal analgesia
3. Administration of chemotherapeutic agents
4. Spinal anaesthesia

Contraindications:

Absolute
No informed consent
Infection at the site
Raised Intracranial Pressure
Severe cardiopulmonary distress

Relative

Bleeding Diathesis
Patients on anti-coagulation therapy
Spinal structural deformities such as kyphosis or scoliosis

Method:

Obtain informed consent and ensure there are no contraindications to the procedure.
Position the patient in either the lateral decubitus or sitting up position with the head, hips and
knee tightly flexed. It is an aseptic technique so clean with povodine-iodine(betadine) and clean
it off with alcohol. Anaesthetize the area with 1% lidocaine.Determine landmark by a horizontal
line connecting the two iliac crests where it meets L4 vertebra and then choosing either the
space above or the space below. With the use of a needle insert it with the tip pointing
upwards in the perpendicular direction of the spine with a slight cephalic tilt. On advancement
feel for a loss of resistance or “give” which indicates entrance in the subarachnoid space and
then observe for the flow of clear fluid indicative of CSF. Collect the CSF in the relevant samples.
Dress the area with a sterile gauze and tape and allow the patient to lie on their back.

Samples to be obtained

Gram stain and culture, viral culture or PCR if indicated in a sterile container (ideal) or red top
tube

Haematology

White cells and differential->purple top tube

Chemistry

Protein->red top tube

Glucose->gray top tube

Serum glucose before procedure***

Complications:

Immediate

Heamorrhage->bloody tap(for each 500RBC subtract 1 WBC)

Epidural Heamatoma
Dysaesthesia(abnormal un pleasant sensation when nerves is touched)
Paralysis(rare)

Late

Infection->(cellulitis,skin abscess,epidural abscessand spinal abscess)

Chemical Arachnoiditis
Post dura puncture headache

Additional Information

Layers with the technique

Skin->Subcutaneous tissue->Supraspinous ligament->Interspinous ligament->ligamentum
flavum->dura mater->arachnoid mater->subarachnoid space
LP is traditionally performed as a follow-up test when a CT scan has shown no SAH and has excluded possible
contraindications to LP such as significant intracranial mass effect, elevated ICP, obstructive hydrocephalus, or
obvious intracranial bleed. LP should not be performed if the CT scan demonstrates an SAH because o f the
(small) risk of further intracranial bleeding associated with a drop in ICP.

An LP is performed to evaluate the cerebrospinal fluid for the presence of red blood cells (RBCs) and
xanthochromia. LP may be negative if performed less than 2 hours after an SAH occurs; LP is most sensitive
12 hours after onset of symptoms. CSF samples taken within 24 hours of the ictus usually show a WBC-to-
RBC ratio that is consistent with the normal circulating WBC-to-RBC ratio of approximately 1:1000. After 24
hours, CSF samples may demonstrate a polymorphonuclear and mononuclear polycytosis secondary to
chemical meningitis caused by the degradation products of subarachnoid blood.

RBCs in the CSF can reflect a traumatic LP rather than SAH; however, SAH often can be distinguished from
traumatic LP by comparing the RBC count of the first and last tubes of CSF. In traumatic LP, the RBC count in
the last tube is usually lower, whereas in SAH the RBC typically remains consistently elevated. Nevertheless,
cases of SAH in which the RBC count is lower have been reported.

No consensus is found in the literature on the lower limit of the RBC count in the CSF that signifies a positive
tap. However, most counts range from a few hundred to a million or more cells per cubic millimeter. The most
reliable method of differentiating SAH from a traumatic tap is to spin down the CSF and examine the
supernatant fluid for the presence of xanthochromia, a pink or yellow coloration caused by the breakdown of
RBCs and subsequent release of heme pigments.

Xanthochromia typically will not appear until 2-4 hours after the ictus. In nearly 100% of patients with an SAH,
xanthochromia is present 12 hours after the bleed and remains for approximately 2 weeks. Xanthochromia is
present 3 weeks after the bleed in 70% of patients, and it is still detectable at 4 weeks in 40% of patients.
Spectrophotometry is much more sensitive than the naked eye in detecting xanthochromia. Nevertheless,
many laboratories rely on visual inspection.

Some authors have suggested that the D-dimer assay can be used to discriminate SAH from traumatic LP.
Results have been conflicting, however, and further data are needed.

Patients with negative CT and LP findings have a favorable prognosis. However, LP findings can be negative in
approximately 10-15% of patients with SAH. In the past, LP findings were thought to be positive in 5-15% of all
SAH presentations that are not evident on the CT scan. This number may be no longer valid with the advent of
newer generations of CT scans. A small retrospective review of patients who presented to the ED and
underwent fifth-generation CT scans and LP showed no cases of a positive LIP after a negative CT scan. [19]
 Informed Consent
Lumbar Puncture

Introduction

Your name ,Guardian’s Name and Name of Child.

(using the patients name can help personalize)
Relation of guardian to child

Permission to talk

“Is it okay with you if I tell you a little more about the procedure that __________ (inserts child’s
name) has to get done.

----------------------- Receives permission

I want to tell more about this procedure so that you will be fully aware of why and how we do
it so that you can make an informed decision with regards to allowing us to go through or not

Relatives Understanding

“Do you mind sharing with me what you understand by the term lumbar puncture and why we
need to it for __________”(inserts child’s name)
----------------------- Based on their response

(If they have an idea) “Yes that is true …I will just be adding a bit to what you said…..”

Basic Anatomy

“Before I explain the procedure, I will just explain to you a little bout the spine and the fluid that
we are going to take off. The bones that you feel along your back protect your spinal cord. The
spine is like a big nerve that is connected to your brain. It helps to control movement and things
like holding your urine. Around the spine and brain is a fluid that helps cushion what’s inside.
This is the fluid that we take off during the lumbar puncture. “

Checks understanding thus far

Before Procedure
“If we haven’t taken a history and done an examination of your child, we will do it before the
lumbar puncture. We do this to make sure your child doesn’t have any reasons for not getting
the procedure.”
“Before we actually do the LP, we will take a little blood from a vein in the hand, because we
have to compare what we find in blood to what we find in the fluid that we tap off”
“We also prepare all our instruments for the LP “
The LP

Before we insert the needle in _______ ‘s back we will first find the spot in the lower back
where we are going to the put the needle.
This is procedure has to be done in a very clean manner to prevent germs from contaminating
the puncture we make and we wash our hands and wear gloves to decrease the risk of infection.
_____________ (childs name) will be lying on their side and bent with their knees to their chest,
We will have other medical professionals there to help us hold him/her in place. It is not a very
comfortable position but it won’t be for long. (sound sympathetic)
After this we clean the area with a cleaning agent and we drape the back to protect the area we
made very clean
We then inject the area we found earlier with a pain killer. They may feel a bit of pain with this
first stick , however it will stop them from feeling the pain of the actual lumbar puncture.
Then we insert the needle to take the fluid off and we will collect the fluid in tubes. We insert
this needle carefully so that we do not hit any nerves or cause any bleeding.
Then after we have collected the fluid, we carefully remove the needle to again prevent any
harm and we cover the puncture with clean dressing’

Check understanding for the procedure. Any questions?

Complications

Like many other things. There some some risks

__________(childs name) May develop:
Headache after the procedure
- Very common
- May start 24-48hrs after
- Goes away on its own
Bleed
-Should stop on its own
-Nothing to worry about if your child does not have a bleeding disorder
Infection
-At the site (not to medical?----cellulitis, skin absecess)

-Possible but risk is very small because we make sure to do the procedure in clean conditions to
prevent contamination with germs

Irritate nerves
-This can lead to a ‘funny’ feeling in the lower limbs
-We are very careful when inserting the needle to decrease the risk of this occuring
Dry tap

- Theres a chance the needle doesn’t go into fluid and nothing comes back
- We check placement and we may reinsert it at that point
Concluding remarks

I know those are a few complications I have mentioned but there is no need to fear. It is a very
common procedure and we take all precautions to decrease the risk of complications
This procedure will help us determine what is happening with __________.

Any questions or concerns?

Thank you for allowing me to talk to you. I hope this information can help you make your decision.
Suprapubic Aspiration

This is a procedure used to obtain urine through insertion of needle and syringe through the
belly into the bladder.

Indications

Diagnostic

1. Urinalysis and urine culture in neonates and for children under two years of age
2. It is performed if there is phimosis, urethral stricture and urethral trauma

Contraindications

Absolute
Child urinate within the last hour
Infection at the site->cellulitis
Intestinal obstruction

Relative

Bleeding diathesis

Method

Obtain informed consent and ensure there are no contraindications to the procedure.
There is need for assistance and the patient is then placed in a supine position with the legs in a
frog legged position as well. Percuss and palpate for a full bladder. Aspetic technique so clean
the area with povodine-iodine and with the use a needle(22G) and syringe the puncture site is
1-2cm above the symphysis pubis in the midline. Puncture at a 10-20 degree angle to the
perpendicular line aiming slightly caudad. Exert suction gently as the needle is advancing until
urine enters the syringe. Do not advance the needle more than an inch. Place specimen in a
sterile urine container. Cleanse the skin of iodine and dress the puncture site with sterile gauze
and tape.

Complications:

Immediate

1. Haemeturia(microscopic)(transient)
2. Intestinal perforation
Late

1. Infection(skin, soft tissue, bladder and intra abdominally)

Additional information

Puncture site locations can be the two creases noted above the symphysis pubis

Colony count for SPA is any amount

Colony forming unit for CSU is more than 104 organism/ml

Colony forming unit of MSU is more than 105 organism/ml on two separate samples showing
same organism and sensitivity

Oral Rehydration Solution Counselling

Acute gastroenteritis is an infection in the belly that is usually caused by a viral infection, there
is no medication we can give the body will take care of the virus and get rid of it. The child will
still pass stool in this time period and as such we recommend the use of ORS. (Other things that
can be used other than ORS are pedialyte or coconut water. An inexpensive home-made
method is 1 litre of cooled boiled water, mixed with 8 leveled teaspoons of brown sugar or 6
level teaspoons of white sugar and 1 leveled teaspoon of table salt.)Can be mentioned here
or not.

Take one packet mix in a clean washed and dry bottle with 1 liter of cool boiled water.
Depending on the age of patient give the volume of ORS for each stool as indicated:

You can give him/her by cup or spoon or sterile dropper. And give teaspoon every 5 mins until
the required amount is finished. Discard the fluid if it past 1 day and pull a new pack. He/she
can take plain food that is crackers, toasted bread or apple sauce and gradually resume to
his/her normal diet. Avoid food that would irritate his stomach. No spicy food and food with a
lot of additives. Ensure to avoid juices, glucose water, sodas, lucozades and Gatorade or any
other drink with a lot of sugar.

If he/she vomits stop the ORS feed and rest the stomach about 10-15 mins and give him back
the same amount but at a slower rate instead of 5 mins go to 10 mins. If still vomit try again
and remember to increase the time, If continuing to vomit bring back to hospital and is
persistent. Bring him back if you realize when he cries there are no tears his lips starts to look
dry and crack, you realize when he urinates it is becoming less frequent and it does not soak the
diaper like it did before. If diarrhea doesn’t resolve in 3-5 days bring back to hospital as well.
Ensure to ask the patient to summarize and show re-assurance.

Additional Information

An inexpensive home-made solution consists of

1 litre of water, mixed with

8 leveled teaspoons of brown sugar or 6 level teaspoons of white sugar
1 leveled teaspoon of table salt

Other things that can be used other than ORS is pedialyte and coconut water
Exchange Transfusion

It is a procedure that involves removal of patient’s blood and replacing it with donor blood in
order to remove abnormal blood components and circulating toxins whilst maintaining
adequate circulating blood volume.

Indication:

Therapeutic

1) Hyperbilirubinemia
2) Severe Anemia/hydrops
3) Sickle cell disease
4) Polycythemia-(partial exchange transfusion)
5) Maternal antibodies(autoimmune disease)

Contraindications

Complications

1) Relating to blood transfusion

a. Immediate heamolytic transfusion reaction
b. Transfusion related acute lung injury
c. Allergic reactions
d. Transfusion associated circulatory overload
2) Metabolic
a. Hypocalcemia
b. Hypomagnesemia
c. Hypoglycemia
d. Hyperkalemia
e. Acidosis
3) Catheter related
a. Performation leading to haemorrhage
b. Infection
4) Procedure itsel
a. Hypotension
b. Necrotizing enterocolitis