Encephalocele

Definition
failure of nerve tube closure
through midline defects in the
developing brain
Epidemiology
• an increase in repeated cases if
the child has previously
experienced
• Baby girls > baby boys
• Frontal encephalocele >
posterios
Etiology
• Multifactorial, in the 3rd to 5th weeks
• Risk factors :
a) Exogenous factors :
- nutrition and vitamin A deficiency
- folic acid deficiency
- Maternal diabetes and possible obesity
b) Chromosomes and genetical malformation
Pathophysiology
• Failure of closure /
morphological changes of the
neural tube (rostrally) primary
neurulation 
• influenced by the work of neural
cells ectoderm (ne), non-neural
ectoderm cells, mesoderm, and
notocord
Clinical Manifestations

Frontal Encephalocele Posterior Encephalocele

a) protrusion on the forehead a) Severe
b) cerebrospinal fluid leaking into b) Blindness
the etmoid or frontal sinuses c) Ataxia
c) some cases of protruding eyes d) mental retardation
Diagnosis
a) History
related to risk factors
b) Physical Exam
- Anterior  protrusion on the forehead or/and eyes
- Posterior  hard to find special signs or abnormalities, need further examination
c)Further examination
• Serological test
presence of alpha-fetoprotein in amniotic fluid (sample from 15-16 week gestation)
• Imaging  USG&MRI
Posterior encephalocele
- midline serebellum agenesis
- representing the greatly dilated fourth ventricle
 MRI
A. Axial View B. Sagittal View
Managements
- Prevention (which is very important) Giving folic acid and vitamin A ,
during early pregnancy
- Consider the management of the lesio
- Hydrocephalus  management of the ventriculoperitoneal shunt is
required
Complications Prognosis
- Hidrocephalus - <30% of patients can survive >1
- Mental retardation year.
- cerebral fluid fistulation into the - patients live> 1 year, 80-90% of
nasal cavity patients experience mental
retardation.