Symptoms & Causes | Encephalocele

Encephalocele is a sac-like protrusion of the brain and brain membranes (tissue that covers and protect the brain) through an opening in the skull. Approximately 375 babies are born each year in the U.S. with an encephalocele.

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:

  • Neurologic problems
  • Hydrocephalus: Cerebrospinal fluid accumulated in the brain
  • Spastic quadriplegia: Paralysis of the limbs
  • Microcephaly: An abnormally small head
  • Ataxia: Uncoordinated muscle movement
  • Developmental delay
  • Vision problems
  • Mental and growth retardation
  • Seizures

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.

Make an appointment

For an appointment with the Cleft and Craniofacial Center, more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email our program coordinator,

International patients

For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.