An encephalocele is a problem that is present at birth (congenital defect) in which an opening in the skull allows a section of the brain and its coverings (meninges) to bulge out into a sac. Most encephaloceles stick out (protrude) from the back of the skull. Some are not visible because they are in the forehead or sinus area.
An encephalocele is a type of neural tube defect. The neural tube is what develops into the baby's brain and spinal cord during pregnancy. An encephalocele can be associated with other conditions, such as a cleft lip or palate, extra fingers or toes, kidney problems, or genital defects. Often, the combination of conditions can indicate a specific syndrome. Children who have had an encephalocele may need therapy to help them deal with complications from the condition.
The cause of this condition is not known.
The defect forms during pregnancy, in the earliest stages of fetal development. It may be genetic, which means that it can be passed from parent to child. Other causes might be environmental factors or certain infections during pregnancy.
Signs and symptoms will depend on many factors, such as the location and size of the defect, and any other abnormalities that may be present.
Usually, this condition is diagnosed with an ultrasound before your baby is born. If your health care provider thinks that your unborn baby may have a birth defect, he or she may recommend a procedure to remove and test a small amount of the fluid that surrounds your baby in your uterus (amniocentesis).
This condition may also be diagnosed at birth, when the sac becomes visible. Rarely, a small encephalocele in the forehead or sinus area of the face is not found until symptoms develop. If your child's health care provider thinks that your child has an encephalocele that is not visible, your child may have imaging tests, including:This condition is treated with surgery. Depending on the severity, surgery may be done right after your child is born or may be done a few months after birth. Sometimes multiple surgeries are needed. Surgery involves removing the sac, removing any injured brain tissue, placing the protruding brain tissue back into the skull, and repairing any defects in the skull. This will help to avoid the development of a life-threatening infection or injury to the brain tissue.
Other abnormalities may also be corrected through surgery. If your child has hydrocephalus, a tube (drain) may be placed in the skull to remove the fluid and prevent pressure from damaging the brain.
Centers for Disease Control and Prevention: www.cdc.gov
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.
