Encephalocele: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Encephalocele?
A pediatric neurosurgeon, a surgeon who operates on the brain and spine in children, usually treats an encephalocele. A neonatologist, a doctor who cares for newborn babies, and a genetic specialist may also help. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is encephalocele?
Encephalocele (en-SEF-a-lo-seal) is a sac-like bulge of the brain and the membranes that cover it. The bulge pushes out through an opening in the skull.
It is a rare type of neural tube defect, a birth defect of the early brain and spine. The neural tube is the structure that forms the early brain and spine. An encephalocele happens when the neural tube does not close completely during early pregnancy.
The opening can be anywhere along the center 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 between the forehead and the nose.
Researchers estimate that about 1 in every 9,091 babies in the United States is born with an encephalocele.
Symptoms
The main sign is a sac-like bulge on a baby's head. The sac may hold brain tissue, the membranes around the brain, parts of the fluid spaces in the brain, and bone. An encephalocele at the back of the skull is more likely to cause nervous system problems.
An encephalocele can also lead to other problems, such as:
- Too much fluid building up in the brain.
- Complete loss of strength in the arms and legs.
- Developmental delay or intellectual disability, which means a child learns and grows more slowly.
- Vision problems.
- Seizures, which are sudden bursts of abnormal activity in the brain. See the emergency signs below.
An encephalocele is often found along with differences in the brain or face. Significant motor and learning problems are common. Motor problems are trouble with movement.
Causes and who gets it
Not all causes of encephalocele are known. A change in the baby's genes, or a mix of genes and other factors, can raise the chance. The cause is probably a combination of things, such as the mother's nutrition, genes passed down in families, and exposure to toxins or infections very early in pregnancy.
Researchers have found some factors in pregnant women that might raise the risk:
- Low folate (vitamin B9) levels early in pregnancy.
- Health conditions, such as diabetes, that are not well controlled.
- Certain medicines, such as antiseizure medicines.
- Overheating, like sitting in a hot tub, and fever.
Doctors link neural tube defects to a lack of folic acid in the mother. Folic acid is a form of folate, a B vitamin. Adding folic acid to the diets of women who could become pregnant is lowering the rate of these birth defects.
How doctors diagnose it
Doctors usually find an encephalocele right after birth. Some are seen on an ultrasound before birth. An ultrasound uses sound waves to make a picture of a baby in the womb. A small encephalocele in the nose and forehead area can go unnoticed.
Treatment
Surgery is the treatment for an encephalocele. The surgeon places the part of the brain that sticks out back into the skull and closes the opening in the skull. Some children need more than one surgery. The treatment depends on where the encephalocele is and which parts of the head and face are affected.
Surgery does not undo nervous system problems caused by the encephalocele. Long-term treatment depends on the child's condition and specific needs.
An encephalocele at the front of the skull is more likely to hold no brain tissue and to have a better outcome than one at the back of the head.
When to see a doctor
A baby with an encephalocele needs a surgeon's care, because surgery is required to place the brain and membranes back in the skull.
Call 911 or go to the emergency room if a child has a seizure, trouble or abnormal breathing, or bluish or grey skin.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care or concierge doctor can look at a child's symptoms, answer questions, and help coordinate care between a surgeon and other specialists. They can also help families find support, because parent education and support are essential.
Common questions
What causes an encephalocele?
Doctors do not know every cause. It happens when the neural tube does not close completely during early pregnancy. Genes, low folate, and some health conditions in the mother can raise the risk.
Is surgery needed for an encephalocele?
Yes, surgery is needed. The surgeon places the brain tissue back in the skull and closes the opening.
Can an encephalocele cause lasting problems?
Yes, it can. Surgery does not remove nervous system problems that the encephalocele has already caused. Long-term care depends on the child's needs.
Does the location of an encephalocele matter?
Yes, the location matters. An encephalocele at the back of the skull is more likely to cause nervous system problems. Treatment also depends on the location.
Sources
- CDC - Encephalocele | Birth Defects
- National Institute of Neurological Disorders and Stroke - Birth Disorders of the Brain and Spinal Cord
- Minnesota Department of Health - Encephalocele
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
