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Neural Tube Defects.

This document discusses neural tube defects, which are birth defects that occur when the neural tube fails to close properly during early embryonic development. It covers the epidemiology, etiology, pathophysiology, types, clinical presentation, diagnosis, management, prevention, and references for neural tube defects. The two most common neural tube defects are spina bifida and anencephaly. Prevention focuses on women consuming adequate folic acid before and during early pregnancy.

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98 views34 pages

Neural Tube Defects.

This document discusses neural tube defects, which are birth defects that occur when the neural tube fails to close properly during early embryonic development. It covers the epidemiology, etiology, pathophysiology, types, clinical presentation, diagnosis, management, prevention, and references for neural tube defects. The two most common neural tube defects are spina bifida and anencephaly. Prevention focuses on women consuming adequate folic acid before and during early pregnancy.

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Chosen
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© © All Rights Reserved
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Neural tube defects

Introduction

Epidemiology
 Etiology/risk factors
 Pathophysiology
 Types
 Clinical presentation

Outline
Investigations

Management
 Prevention
 Neural tube defects (NTDs) are birth defects (congenital
conditions) of the brain, spine or spinal cord.
 They happen to developing fetuses within the first month of
pregnancy
Introduction  often before a mother knows she is pregnant.
 The two most common neural tube defects are spina bifida and
anencephaly.
 The prevalence of NTDs ranges from one to 10 per 1,000
births, being highest in some regions of China.
 in Africa is 11.7 per 10,000 live births
 spina bifida in Africa was 0.13% with a range between 0.12%
and 0.14%.

Epidemiology  In Africa, the highest burden of spina bifida was detected in


Algeria (0.43%), Ethiopia (0.32%), Tanzania (0.26%),
Cameron (0.12%), Egypt (0.10%), and South Africa (0.10%).
 Eastern Africa is 5 times as high as observed in Western
countries
 Uganda is consistent with current estimates for Africa.
Exact cause of NTDs are unknown, but associated with the
following factors;
 Genetical factor
 Nutritional factor
 Environmental factor
Etiology  Poor intake of folic acid (folate)
 Intake of anti epileptic medication during pregnancy
 Obese woman
 Diabetes (insulin dependent)
Pathophysiolog
y Gastrulation

Gastrulation
Gastrulation
cont..
Neurulation
Neurulation
cont….
Neurulation
Cont..
Failure of the neural tube to close lead to;
 Spina bifida results from incomplete closure of the neural tube
Pathophysiolog at the caudal end (most commonly in the lumbar region).

y cont….  Anencephaly results from failure of the neural tube to close at


the cephalic end, leading to the partial absence of the brain and
skull.
Spina Occulta

Meningocele
Spinal cord defects
.
Types of NTDs

Myelomeningocele
Anencephaly
Types of NTDs
Brain defects .
cont…

Encephalocele
Spina bifida occulta:
 Is the mildest form
 Have a Small gap in the Spine but the opening cannot be seen
in the back.

Common types  Brain and spinal cord functions are normal and there is no
disabilities.
of Spina bifida  It usually discovered only on x ray or scan.
Spina bifida
occulta cont..
 Is a sac of fluid not involving the spinal cord that comes out
Meningocele through an opening in the back and involve meninges also.
Meningocele
cont..
Signs and  Most children with a Meningocele do not have any symptoms

symptoms of  They may present with symptoms such as low back pain and
bowel and bladder symptoms
Meningocele
 Is one of the most common and most severe form of Spina
bifida.
 In this the unfused portion of the spinal column allows the
spinal cord to protrude through an opening
Myelomeningo  Forming a sac enclosing the spinal elements, such as;
cele 1. Meninges
2. Cerebrospinal fluid
3. Parts of the spinal cord and nerve roots
Myelomeningo
cele
cont..
 Loss of bladder or bowel control
 Partial or complete loss of sensation
 Partial or complete paralysis of the legs
 Weakness of the hips, legs, or feet of a newborn

Sign and Others;

symptoms 1.
2.
Clubfoot
Hydrocephalus
3. Hair present at the sacral region
4. Dimpling of the sacral area
Anencephaly;
 Is the absence of a major portion of the brain, skull and scalp
that occurs during embryonic development.
Brain defects  Infant with this disorder do not survive longer than a few hours
or possibly days after their birth.
Anencephaly
cont….
 Sometimes known as cranium bifidum
 Is a NTD characterized by sac like protusions of the brain and
meninges.
Symptoms;

Encephalocele 1. Neurologic problem


2. Hydrocephalus
3. Spastic quadriplegia
4. Microcephaly
Encephalocele
cont….
 Ultrasound

Diagnostic  Maternal serum alfa feto protein at 16-20 weeks of gestation

tests  Amniotic alfa feto protein


 Amniotic acetyl cholinesterase
Medical care;
 The patient should be positioned in prone position to prevent
pressure on the defects
Management  The newborn with an open NTD should be kept warm and the
defects covered with a sterile wet saline dressing.
 Prophylactic IV antibiotic should be initiated.
Surgical;
 Neurosurgical repair of the defects is considered the mainstay
of treatment for open Spina bifida.
 Closed Spina bifida does not usually warrant any immediate
Management surgery.
cont…  The cele closure is typically performed within 1 to 3 days after
delivery.
 Neonate born with severe Hydrocephalus should have
ventriculoperitoneal shunt placed concurrently.
Management
cont…
Nursing care;
Assessment
 Depends on the spinal involvement

Management  Visible spinal defects

cont….  Flaccid paralysis of the legs


 Altered bowel and bladder pattern
 Perform neurological assessment
 Evaluate the sac and measure lesion
 Monitor for increased ICP
 Measure head circumference
Nursing  Protect sac with non adherent moist dressing
interventions  Place child in prone position
 Use aseptic techniques
Nursing  Monitor for early signs of infection
interventions  Administer antibiotics
cont…  Prepare family for surgery
 Expert recommended that all women of childbearing age
should take a daily supplement of 400 micrograms of folic acid.
 Educate mothers regarding intake of folic acid especially in the
preconception period and during pregnancy
Prevention of  Women already had first pregnancy with NTD should take a
NTDs daily 4mg tablet of folic acid for at least one month before
conception and then throughout the first 12 weeks of
pregnancy.
 Genetic counseling or screening
 Roberts, Iwan. “Nelson’s textbook of pediatrics (20 th edn.), by
R. Kliegman, B. Stanton, J. St. Geme, N. Schor (eds) Elsevier,
Philadelphia, 2016, Hardcover (2 volumes) 3,888 pp., English,
ISBN 978-1-4557-7566-8

References  https://scholar.google.com/scholar?
hl=en&as_sdt=2005&sciodt=0%2C5&as_ylo=2022&cites=158
35283910122670520&scipsc=&q=incidence+of+neural+tube+
defects+in+Africa+&btnG=#d=gs_qabs&t=1680633098619&u
=%23p%3DYQZIwMaXgj8J

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