Encephalocele

Condition Description

Encephalocele (en-SEF-ah-lo-SEEL) is a type of neural tube defect (NTD) that occurs very early in fetal life where the embryo's cells that form the skull do not come together to close over the brain. The result is a defect in the bones of the skull, causing brain tissue to protrude or bulge from the skull. The protruding tissue may be located on any part of the head but is usually in the middle back of the head (midline occipital area). There may be meninges, brain tissue, parts of the ventricles and bone that protrude from the skull. Encephaloceles are typically diagnosed by prenatal ultrasound. Encephaloceles located on the front of the skull are more likely not to contain brain tissue and have better outcomes than those at the back of the head.

At least half of all survivors of encephaloceles have significant cognitive deficits. The involved brain structures will determine the type of deficit, but significant motor and learning deficits are common.

The cause of an encephalocele is not known but it is probably a combination of factors such as maternal nutrition, a genetic predisposition, and exposure to toxins or infections very early in fetal life. Neural tube defects appear to be associated with maternal lack of folic acid, and supplementing the diets of all women of childbearing age with folic acid is decreasing the rate of these disorders. Encephaloceles occur at a rate of 1 in 5,000 live births and are often associated with stillbirth before 20 weeks gestation. Only 20% of babies with encephaloceles are born alive, and only 1/2 of those survive. 

Using data from Minnesota births between 2014-2018, we found 24 babies were born with encephalocele, resulting in a rate of <1 babies per 10,000 births. Annually, about 65 babies are born with encephalocele. Parental education and support are essential, and local, regional, and national organizations may be very helpful.

Parental education and support are essential, and local, regional, and national organizations may be very helpful.

Condition specific organizations

• Centers for Disease Control and Prevention
• Birth Disorders of the Brain and Spinal Cord
• National Organization for Rare Disorders