Encephalocele - What is it? By Neda Brinster

Overview:

• A sac-like profusion of the brain and the membranes that cover it through an opening in the skull.

• This defect affects the neural tube, a channel that folds and closes within the first month of pregnancy, to form the brain and spinal cord.

• This condition results in an opening, often at the back of the head

Picture: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities

Causes:

Encephalocele is most common in the offspring of families with other neural tube defects, such as spina bifida and anencephaly. Currently, the CDC is researching the environmental exposures during pregnancy that could cause this and the positive impact of taking B vitamin, or folic acid, which can help prevent major birth defects of the baby's brain and spine.

Diagnosis:

Encephalocele is almost immediately diagnosed following birth. However, depending on the location of the defect on the head, a small encephalocele in the most or forehead region can go undetected. Encephalocele located at the back of the head can have greater damage.

Symptoms: Depending on the location of the Encephalocele, symptoms may vary. Encephalocele at the back of the skull has greater damage and more severe symptoms.

Common Symptoms include...

• A buildup of fluid in the brain

• Complete loss of strength in the arms and legs

• Unusually small head --> caused by skull defect

• Developmental delay

• Intellectual disability

• Vision problems

• Seizures

Treatment:

Encephalocele must be treated with surgery to place the protruding part of the brain and membranes back inside the skull. However, this treatment does not fix all neurological problems associated with Encephalocele. Long term treatment for such treatment depends on the specific condition.

Citations:

“Congenital Brain Malformations.” Ucsfbenioffchildrens.org, https://www.ucsfbenioffchildrens.org/conditions/congenital-brain-malformations#:~:text=Congenital%20brain%20malformations%20are%20a,continues%20to%20grow%20throughout%20pregnancy.

“Facts about Encephalocele.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 16 Dec. 2022, https://www.cdc.gov/ncbddd/birthdefects/encephalocele.html.