What is an encephalocele?

An encephalocele is a rare birth defect in which the tissue covering the brain, and a portion of the brain itself, protrude through openings in the skull. It may be accompanied by other craniofacial defects.

Encephaloceles can occur anywhere in the skull — involving the top, back, or sides of the head or the forehead, nose, and eye area. Their severity varies, depending on their size, location, and what parts of head and face are involved.

The exact cause of encephalocele is unknown. It a type of neural tube defect, meaning that the neural tube — a narrow channel that should close during early gestation to form the brain and spinal cord — does not close properly.

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What are the symptoms of an encephalocele?

Doctors can see an encephalocele as soon as your baby is born. Sometimes a small encephalocele in the nose and forehead region can go undetected until properly diagnosed. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Symptoms of encephalocele that your child may face include:

Encephalocele can be treated with surgery. Learn more about encephalocele treatment at Boston Children’s.

What causes an encephalocele?

An encephalocele forms when the neural tube does not close properly during gestation. A neural tube is a narrow channel that folds and closes to form the brain and spinal cord. The exact cause, however, is unknown. It usually occurs among families with a history of spina bifida and anencephaly.

Women who are or plan to become pregnant should consume a healthy diet with good sources of vitamin B (folic acid). During pregnancy, an increase in vitamin B may reduce the number of babies born with neural tube defects.

Why choose Boston Children’s Hospital for treatment of encephaloceles?

The Craniofacial Program at Boston Children’s brings together a team of highly experienced neurosurgeons, plastic surgeons, oral and maxillofacial (face and jaw) specialists, dentistry professionals, psychologists, and social workers, all experienced in rare malformations. While repairing the physical deformity, we also focus on minimizing disability from any neurologic and developmental damage that may have occurred. Meet our craniofacial team.

Our program has pioneered the use of 3-D printed models of the brain and skull to help plan operations for craniofacial deformities, including encephalocele. The models are created from an individual child’s imaging scans in partnership with Boston Children’s Simulator Program, allowing surgeons to plan and rehearse complex operations.