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Floppy infant
Definition:
Means hypotonia or persistent weakness.
Causes:
Central cause:
Encephalopathy.
Atonic cerebral palsy.
Intracranial hemorrhage.
Inborn error of metabolism.
Chromosomal abnormalities.
Congenital brain malformation.
Hypoxic ischemic encephalopathy.
Genetic:
Down syndrome
Prader Willi syndrome
Ehler – Danlos syndrome
Metabolic:
Malnutrition
Malabsorption
Hypocalcemia
Hypothyroidism
Glycogen storage disease
Neuropathy:
Botulism
Myasthenia gravis
Peripheral neuropathy
Spinomuscular atrophy
Familial dysautonomia
Following antibiotic treatment
Muscular:
Congenital myopathy
Congenital dystrophy
Simple parameters:
 Weak cry
 Weak cough
 Weak swallowing
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Clinical picture:
 Frog leg position while prone position
 C-shape by ventral suspension
 Head lag when pull to sit
 Acrobatic sign +ve
 Scarf sign +ve
 Slipping down
Other signs:
 Hypotonia
 Hyporeflexia*
 Fasciculation*
 Joint contracture

Differentiating features of floppy infant according to site of involvement

Site of involvement Deep tendon Electromyography Muscle biopsy

reflexes
Central Normal or increased Normal Normal
Anterior horn cells Absent Fasciculation Denervation
Fibrillation
Peripheral nerve Decreased Fibrillation Denervation
Neuromuscular Normal Decremental Normal
Incremental
Muscle Decreased Short duration Characteristic
Small amplitude
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Neuromuscular disorders

 Neuromuscular disorders = Weakness& hypotonia

Upper motor neuron=UMNL:
 The cortico-spinal tract and its neurons from the cerebral cortex through the spinal cord
that control voluntary motor activity
 Dysfunction of the (UMNL) causes loss of voluntary control
 No total loss of movement.
 The distribution of weakness depends on the location of the lesion:
 A lesion in the left parietal region may produce a right hemiparesis.
 A lesion in the right parietal region may produce a left hemiparesis.
 A brainstem lesion produce a slowly progressive quadriparesis& cranial nerve deficit.
Lower motor neuron=LMNL:
 The anterior horn cells, their motor roots, peripheral motor nerves, neuromuscular
junctions, and muscles are the neuromuscular component.
 Destruction of the (LMNL) leads to total absence of movement because it is the final
common pathway producing muscle activity.
 The distribution of muscle weakness can point toward specific disease.
Differences between UMNL& LMNL:
Sign Upper motor neuron lesion Lower motor neuron lesion
Tone Increased (spastic) Decreased (floppy)
Reflexes Increased Decreased
Babinski Present Absent
Atrophy Absent Possible
Fasciculation Absent Possible
UMNL= cortico-spinal LMNL= neuro-muscular
Etiology of LMNL (myopathy & neuropathy)
CITTTAN
Congenital
Infections
Infarction
Tumors
Trauma
Autoimmune
 Metabolic diseases
 Degenerative diseases
 Demyelinating syndromes
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Lower motor neuron lesion

Neuromuscular diseases:
 Proximal muscle weakness
 Distal muscle weakness
 Face& bulbar muscles
 Eye& limb
Proximal muscle weakness: myopathy
 Limb girdle
 Polymyositis
 Dermatomyositis
 Duchenne muscular dystrophy
 Kugelburg-Welander disease (late onset SMA)*
Distal muscle weakness: neuropathy
 Polyneuropathy (Guillain-Barre syndrome)
 Hereditary motor sensory neuropathy I
 Hereditary motor sensory neuropathy II
 Myotonic dystrophy*
 Distal myopathy*
Face& bulbar muscles weakness:
 Botulism
 Poliomylitis
 Myasthenia gravis
 Myotonic dystrophy
 Congenital myopathy
 Facioscapulohumeral dystrophy
 Miller Fisher variant of Guillain-Barré syndrome
Eye& limb weakness:
 Botulism
 Myasthenia gravis
 Myotonic dystrophy
 Congenital myotubular myopathy
 Miller Fisher variant of Guillain-Barré syndrome
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Myopathy
Duchenne Muscle Dystrophy:
Occurs in boys (X linked)
Clinical picture:
 At 2 to 3 years of age.
 Mild slow motor milestones.
 Awkward gait and an inability to run properly.
Examination:
 Tip walking.
 Hyper-lordotic.
 Waddling gait.
 Firm calf muscles pseudo-hypertrophy.
 Mild to moderate proximal leg weakness.
 Inability to arise from the ground easily (Gower sign)
 Arm weakness by six years of age.
Clinical picture:
 Wheelchair by twelve years of age.
MUSCLE:
 Respiratory difficulty by sixteen years of age.
 Mutation at Xp21 / Male
 Death by pneumonia or congestive heart failure.  Unusual waddling gait
Investigations:  Scoliosis
 Serum creatine phosphokinase is high.  CPK is high / Cardiomyopathy
 Muscle biopsy: muscle fiber degeneration.  Lower motor neuron lesion
 Prenatal diagnosis is possible by genetic testing.  Exaggerated lordosis / Early death
Treatment:
Supportive:
 Bracing
 Physical therapy
 Proper wheelchair
 Prevention of scoliosis
 Multidisciplinary approach.
Specific:
 Predenisolone 0.75 mg/g/day
 Golodirsen (Vyondys 53)
 Deflazacort
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Myotonic Dystrophy:
 Autosomal dominant disease.
 Patients grasp onto an object
 Have difficulty releasing their grasp
 Then peeling their fingers away slowly.
 It is a disorder of the muscle relaxation.
 Slowly progressive facial and distal extremity weakness.
Facial characters:
 Hollowing of muscles of temples, jaw,& neck
 Drooping of their lower lip
 Facial muscle weakness
 Mild dysarthria
 Nasal voice
 Ptosis

Limb-girdle dystrophy:
Clinical picture:
 It is similar to those of Duchenne dystrophy
 Seen in an older child or teenager
 It start as weakness of shoulders
 Can not elevate his arms
 Or as weakness of pelvis
 Can not climb stairs
 Forearms& legs are intact!
 Progress slowly over years.
 By midadulthood, most patients are wheelchair bound.

Facioscapulohumeral dystrophy:
 Autosomal dominant
 It is seen in teenagers
 Progression is slowly
 Child has mild ptosis
 Expressionless face
 Inability to whistle by lips
 The child has neck weakness
 There is scapular winging
 Difficulty in fully elevating the arms
 Thinness of upper arm musculature
 Most patients retain excellent functional capabilities for decades
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Congenital myopathies:
 (nemaline rod, central core, myotubular)
 They are a group of congenital, genetic, nonprogressive or slowly progressive.
 Profound hypotonia with moderately diffuse weakness of limbs and face.
 Associated conditions include:
 Clubfoot
 High-arched palate Clinical picture of myotonia:
 Congenitally dislocated hips DREAMS
 Contractures at hips, knees, ankles, or elbows  Dominantly inherited
secondary to intrauterine weakness.  Reflexes decreased
 Moderate to severe delay of motor milestones  Enzyems normal
 It is static or slowly progressive disease.  Apathic floppy infant
 Progressive kyphoscoliosis in some children.  Milestones delay
 Reflexes are diminished.  Skeletal abnormalities
Management:
 No specific treatment for myopathy diseases Types of muscular dystrophies:
DUMBLES
 DMD
 Emery
 Myotonia
 Becker
 Limb girdle
 Shoulder girdle
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Dermatomyositis:
 It is autoimmune disease
 Progressive proximal muscle weakness
 Subcutaneous calcinosis is a late finding
 It is coupled with dermatologic features
 Including erythematous rash around the eyes (heliotrope) and plaques on the
knuckles (Gottron papules) and on extensor surfaces of the knees, elbows& toes.
 Subcutaneous calcinosis is a late finding.
Investigations:
 Myositis-specific autoantibodies in the serum.
 Elevated serum creatine phosphokinase levels,
 EMG, (MRI) of muscle, and muscle biopsy.
Treatment:
 Predenisolone 2mg/kg/day
 Methotrexate up to 15 mg/m2
 For at least 2 years.
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Myasthenia Gravis:
Autoimmune condition.
Antibodies to the acetylcholine receptors at the neuromuscular junction block and, through
complement-mediated pathways, damage the neuromuscular junction.
Clinical picture:
 It begin in the teenage
 It has a fluctuating picture
 Minimal on awakening in the morning
 Gradually worsen during the day or with exercise.
 It can affect:
 Ptosis
 Diplopia
 Mastication
 Swallowing
 Respiration
 Ophthalmoplegia
 Weakness of extremities, neck, face, and jaw.
Investigations:
 IV Edrophonium chloride (Tensilon test)
 Antiacetylcholine receptor antibodies.
Treatment:
 Pyridostigmine (Acetylcholine esterase inhibitor)
 Prednisone
 Plasmapheresis
 Immunosuppressive agents.
 Surgical treatment (Tyhmectomy)
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Neuropathy

Diseases of the anterior horn cells:

Spinal Muscular Atrophy SMA:
 A genetic disease that begin in the intrauterine life.
 Progressive degeneration of anterior horn cells.
 Or it begin at any time thereafter.
 It progress at a rapid or slow.
 It has 4 types.
The earlier in life the process starts, the more rapid the progression.
Werdnig-Hoffmann disease=SMA1
Clinical picture;
 Infants are affected at birth
 Become weak within the first six months
 It progress to flaccid quadriplegia in proximal
 Quadriplegia of all limbs followed by respiratory muscle weakness.
 Bulbar palsy, respiratory failure, and then death within their first year.
Examination:
 Frog leg
 Head lag
 Scarf sign
 Ventral suspension
 Shoulder suspension

Investigations:
 NCV& Genetic study
Treatment;
 Intrathecal injection of spinraza
 It regenerate the anterior horn cells
 It is repeated till recovery & improvement
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Kugelberg-Welander syndrome:
 Begins in late childhood or adolescence
 Proximal weakness of the legs then arms
 It progresses slowly over decades until final death
Clinical picture:
 Infants have normal mental, social, and language skills.
 The eyes remain bright, open, mobile, and engaging.
 Weakness is flaccid, with early loss of reflexes.
 Fasciculations of the tongue during sleep
 the child has normal sensation
Investigations:
 CPK
 EMG
 NCV
 DNA
Treatment:
 Supportive: Team
 Specific: Oral Evrysdi
 Intrathecal injection of spinraza
 It regenerate the anterior horn cells
 It is repeated till recovery & improvement
 Or may be used for whole life, but it is too corty.
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Spinal cord lesions:

 Acute spinal cord lesions, such as infarction or compression, may produce a flaccid,
areflexic paralysis that mimics lower motor neuron disease.
 A child who exhibits an acute or subacute flaccid paraparesis is most likely to have either
an acute cord syndrome or Guillain-Barré syndrome.
Acute cord syndrome:
Causes CITTTAN:
 Infection (Transverse myelitis)
 Infarction
 Tumor
 Trauma
 Demyelination
Clinical picture of spinal cord disease:
 Motor level
 Sensory level
 Local spinal pain or tenderness
 Disturbance of bowel and bladder function
Transverse myelitis:
It is an acute post-infectious demyelinating disorder of the spinal cord.
Clinical picture:
 Back pain
 Motor level
 Sensory level
 Loss of sphincter control
Investigations:
 Spinal MRI
Treatment:
 High-dose steroids.
 Bowel& bladder care
 Physiotherapy of limbs
Differential diagnosis:
Trauma, tumors& GBS.
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Poliomyelitis:
 Is an acute enteroviral illness.
 It starts as prodromal vomiting and diarrhea
 Associated with an aseptic meningitis picture
 Evolution of an asymmetrical flaccid weakness
 Due to affected groups of anterior horn cells and its death.
 It can affect single muscle or a group of muscles or single limb or
many limbs or bulbar muscles.
Examination:
 Asymmetrical acute flaccid paralysis
 Subsequent atrophy
Treatment:
 Only physical &psychological support
 Tendon shortening
Prevention:
 Oral sabin vaccine
 IM salk vaccine

Tick paralysis:
 A female tick attached to the skin
 It releases a toxin, similar to botulism
 Blocking neuromuscular transmission and causes acute LMNL.
 A severe generalized flaccid weakness, including ocular, papillary, and bulbar paralysis.
Treatment:
 Search for an affixed tick, particularly in hairy areas.
 Removal of the tick results in a prompt return of motor function.
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Peripheral neuropathy:
 Hereditary motor sensory neuropathy I
 Hereditary motor sensory neuropathy II
 Guillain-Barré syndrome
 Tick paralysis
 Botulism

Hereditary motor sensory neuropathy (HMSN):

 Autosomal dominant trait.
 Called Charcot-Marie-Tooth disease
 It is a chronic, genetic polyneuropathy
 Characterized by weakness and wasting of distal limb muscles.
Clinical picture:
 Most often, complaints begin in the preschool years
 Pes cavus deformity of the feet
 Weakness of the ankles
 Frequent tripping.
Examination:
 High-arched feet
 Bilateral weakness of foot dorsiflexors
 Progression of HMSN is slow, over decades.
 Normal sensation despite occasional complaints of paresthesia.
 Eventually, there is weakness and atrophy of the lower legs and hands.
 At the end there is mild to moderate sensory loss in the hands and feet.
Investigations:
 NCV: decreased
 Nerve biopsy: hypertrophic changes
 DNA testing is available for many forms of HMSN.
Treatment:
 Only supportive
 Braces that maintain the feet in dorsiflexion can improve function.
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Guillain-Barré syndrome:
 It is a post-infectious autoimmune peripheral neuropathy.
 It occurs after viral URTI or GE.
Clinical picture:
 Beginning in the legs and ascending upward.
 Start with numbness or paresthesia in the feet.
 Acute flaccidity, and relatively symmetrical weakness
 It can involve trunk, arms, face, throat & bulbar muscles.
 Progression can occur rapidly, or more indolently, over weeks.
 Dysfunction of autonomic nervous system ANS can leads to hypertension,
hypotension, orthostatic hypotension, tachycardia, and other arrhythmias.
 Episodes of abnormal sweating, abnormal flushing, or peripheral vasoconstriction.
 Urinary retention, incontinence, or stool retention. Deep tendon reflexes are absent.
Differential diagnosis: DAVID
 Diabetes mellitus
 Alcoholism/ Addison / Autoimmune
 Vitamin B12, B1& E deficiency
 Infective: polio, diphtheria/ Inherited HSMN
 Drugs& toxins e.g. INH, organophosphorus& lead.
Investigations:
 The cerebrospinal fluid (CSF) is often normal in the first days of the illness
 Later in the disease, shows elevated protein levels without significant pleocytosis.
Treatment: Supportive& specific:
 Therapy is symptomatic
 Continuous monitoring of respiration
 Monitoring of cardiac functions, blood pressure
 Nutrition, fluids, electrolytes; bowel& bladder management
 Psychological support& rehabilitation of the prolonged course
 Severe or rapidly progressive disease or who has hypoventilation:
 Admission in Pediatric intensive care unit.
 Elective endotracheal intubation
 Intravenous immunoglobulin
 Plasma exchange.
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Botulism:
Ingestion of honey which contains spores of clostridium 
Toxins released from the spores of clostridium botulinium
in the large intestine  cholinergic block  poor suckling
difficult swallowing  weak cry  head lag 
facial muscle weakness  limb weakness 
generalized hypotonia
Paralysis is descending from up downward.
Investigations:
 CPK
 NCV
 EMG
 Tensilon test
Treatment:
 Supportive: SIMV& N/G tube feeding
 Specific: antitoxin for that not start working.