Neural Tube Defects.

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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Neural tube defects

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

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

Sign and Others;

Encephalocele 1. Neurologic problem

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

tests  Amniotic alfa feto protein

Management  Visible spinal defects

cont….  Flaccid paralysis of the legs

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