What is Encephalocele
Encephalocele is a birth 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 brain and spinal cord during pregnancy.
Encephalocele can be associated with other conditions, such as a cleft lip or palate, extra fingers or toes, kidney problems, or genital defects. Children who have had encephalocele may need therapy to help them deal with vision problems or other complications.
What are the causes?
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.
What are the signs or symptoms?
Encephaloceles are usually visible at birth as a bulge or lump. Occasionally, an encephalocele in the forehead or sinus area of the face is so small that it is not noticed. Encephaloceles can cause signs and symptoms including:
- Delayed development.
- Fluid buildup in the brain (hydrocephalus).
- Jerky movements that cannot be controlled (seizures).
- Vision problems.
- Head size that is smaller than normal.
- Weakness or stiffness of the arms and legs.
- Uncoordinated movements related to walking and reaching.
- Learning difficulties.
- Repeated infections in the lungs or airways (respiratory tract infections).
- Nasal discharge.
- Breathing problems.
- Infection of the membranes that line the brain and spinal cord (meningitis).
How is this diagnosed?
This condition may be diagnosed with an ultrasound before your baby is born. If your health care provider thinks that your 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 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:
- Ultrasounds.
- CT scan.
- MRI.
How is this treated?
This condition is treated with surgery. Surgery may be done right after your child is born, or a few months after birth.
- Surgery involves removing the sac, 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.
Follow these instructions at home:
- Learn as much as possible about encephalocele. This can help you make treatment decisions and know what to expect.
- If
your child does not have surgery right after birth, follow instructions
from your health care provider about:
- Keeping your baby safe.
- Protecting your baby’s head.
- Feeding your baby.
- Comforting your baby.
- Give your child over-the-counter and prescription medicine only as told by your child’s health care provider.
- Keep all follow-up visits as told by your child’s health care provider. This is important.
Contact a health care provider if:
- Your child has repeated upper respiratory tract infections.
- Your child has a fever.
Get help right away if:
- Your child has trouble breathing.
- Your child who is younger than 3 months has a fever of 100°F (38°C) or higher.
- Your child vomits.
- Your child is sleepier than usual or seems unaware of his or her surroundings.
- Your child has a seizure.
Summary
- An encephalocele is a birth defect in which an opening in the skull allows a section of the brain and its coverings (meninges) to bulge out into a sac.
- Children who have had encephalocele may need therapy to help them deal with vision problems or other complications.
- It is important to learn as much as possible about encephalocele. This can help you make treatment decisions and know what to expect.
- This condition may be diagnosed using an ultrasound before the baby’s birth. In other cases, the sac is noticed after birth. Rarely, a small encephalocele in the forehead or sinus area of the face is not found until symptoms develop.
- This condition is treated with surgery. Surgery involves removing the sac, placing the protruding brain tissue back into the skull, and repairing any defects in the skull.
