If you have just been told your baby has, or may have, an encephalocele, you are probably scared and searching for plain answers. This article is the calm starting point.
What is an encephalocele?
An encephalocele is a rare birth defect in which a sac-like pouch — containing the membranes that cover the brain, and sometimes brain tissue itself — pushes out through an opening in the skull. It is a type of neural tube defect, meaning it traces back to very early pregnancy, when the structure that forms the brain and spinal cord did not close completely.
The opening can be almost anywhere along the midline of the skull, from the nose to the back of the neck. The most common spots are the back of the head, the top of the head, or the area between the forehead and nose.
How common is it?
Encephalocele is rare. The U.S. Centers for Disease Control and Prevention estimates it affects roughly 1 in every 9,000 babies born in the United States. Worldwide, estimates range from about 1 to 5 per 10,000 births, and the typical location differs by region.
What it does not mean
- It does not mean you did something wrong. Encephalocele forms in the first month of pregnancy, often before you knew you were pregnant.
- It does not automatically mean the worst outcome. Some encephaloceles are small and contain little or no brain tissue, and many children do well after surgery.
- It does not mean there are no options. Encephalocele is treated surgically, and there are experienced craniofacial and neurosurgical teams who do this work.
What it can mean
The outlook varies enormously. It depends mainly on where the encephalocele is, what is inside the sac, how big it is, and what else the brain imaging shows. That is why your team will want detailed pictures of your baby's brain before making any predictions.
What parents should do next
- Get to a specialized center. Encephalocele is rare, so experience matters. Ask for referral to a children's hospital with a craniofacial and pediatric neurosurgery team.
- Ask for clear imaging. Detailed scans (often MRI) tell the team what is in the sac and how the brain is formed.
- Write down your questions. You will be in many appointments; a running list helps.
- Lean on support. This is a lot to carry. Family, counselors, and parent groups can help.
Sources
- CDC — Encephalocele (Birth Defects)
- Cleveland Clinic — Encephalocele
- Children's Hospital of Philadelphia (CHOP) — Encephalocele
- Boston Children's Hospital — Encephaloceles
- NORD (National Organization for Rare Disorders) — Encephalocele