Encephalocele

What is an encephalocele?

An encephalocele (pronounced in-SEF-a-lo-seal) is a birth defect that affects the brain. It occurs early in a woman’s pregnancy when part of the baby’s skull does not close all the way. Part of the baby’s brain may come through the hole in the skull. Sometimes, part of the membrane that covers the brain and spinal cord (meninges) and cerebrospinal fluid (CSF) also come through the hole in the skull.

Normally, a baby’s brain and spinal cord (central nervous system) develop inside a structure called the neural tube. When the neural tube does not close the normal way, part of the brain may stick outside the neural tube. Either skin or a thin membrane covers the part of the brain that is outside the skull. Doctors call this covering a sac.

An encephalocele can be in any of these places:

• In the base of the skull
• In the area of the nose, sinuses and forehead
• From the top of the skull around to the back of the skull at the midline

Encephalocele in Children

The Centers for Disease Control and Prevention estimates about 375 babies are born each year in the United States with encephalocele. In some parts of the world, encephalocele is more common. It is one of the least common neural tube defects in the United States.

These are some common traits of encephaloceles:

• Girls are more likely to have an encephalocele in the back of their skull.
• Boys are more likely to have an encephalocele in the front of their skull.
• In North America, encephalocele happens more often in the back of the skull.
• In Southeast Asia, encephalocele happens more often in the front of the skull.

Doctors think that the genes babies get from their parents might play a role in causing an encephalocele. The condition happens more often in families that have a history of neural tube defects called spina bifida and anencephaly.

Encephalocele at Seattle Children’s

Seattle Children’s has the largest team in the region to treat encephalocele. After we carefully evaluate your baby, we tailor a treatment plan to their needs.

Based on where the encephalocele is, babies may have other conditions, like these:

• Hydrocephalus
• Vision changes
• Pituitary problems
• Differences with the bones in their skull and face

Seattle Children’s brings together experts from many medical specialties, including Neurosurgery, Craniofacial, Plastic Surgery, Ophthalmology and Endocrinology, to take care of your child.

If your doctor suspects or sees from a prenatal ultrasound that your baby has an encephalocele, our experts can use fetal MRI (magnetic resonance imaging) to get more details about your baby’s condition before birth. We have one of the leading fetal MRI researchers in the country, Dr. Dan Doherty. Pregnant women can come to Seattle Children’s Fetal Care and Treatment Center for an evaluation. Our doctors can consult with you about what to expect and what treatment your baby might need after birth.

Symptoms of Encephalocele

Some babies with encephaloceles have other problems with their skulls and brains. These are some of the symptoms and conditions that might happen with encephalocele:

• Too much cerebrospinal fluid (CSF) in parts of the brain (hydrocephalus)
• Very small head (microcephaly)
• Seizures
• Problems with vision
• Problems with breathing if there is a large encephalocele around the nose
• Swallowing problems
• Pain around the encephalocele
• Delayed growth and development
• Spasticity (high muscle tone) or other movement disorders

Diagnosing Encephalocele

Usually doctors can see an encephalocele when a baby is born because there is a bulge on the head and a divide (cleft) in the skull or facial bones. But sometimes encephalocele is diagnosed later, even when a child is a few years old. Sometimes, doctors may not see a small encephalocele right away. These small encephaloceles are usually around the baby’s nose, sinuses and forehead.

Sometimes doctors can see an encephalocele on a prenatal ultrasound. If this happens, fetal MRI (magnetic resonance imaging), available at Seattle Children’s, can provide more details about your baby’s condition. Pregnant women can come to Seattle Children’s Fetal Care and Treatment Center or the Prenatal Diagnosis Clinic at University of Washington Medical Center for an evaluation. Our doctors can consult with you about what to expect and what treatment your baby might need after birth.

Treating Encephalocele

In most cases, treatment for encephalocele is surgery to put the part of the brain that is outside the skull back into place and close the opening. Our neurosurgeons can often repair even large encephaloceles without causing your baby to lose more function.

Your baby’s treatment will be tailored to their needs. Often, babies with encephaloceles need to be evaluated and treated by experts from Craniofacial, Plastic Surgery, Ophthalmology and Endocrinology along with Neurosurgery. Sometimes a shunt is needed to drain cerebrospinal fluid (CSF) from around the brain. Seattle Children’s brings together a complete team to care for your child in one place.

Surgery for Encephalocele

Usually, neurosurgeons repair encephaloceles within the first few months of life. If skin covers your baby’s encephalocele, giving it some protection, the neurosurgeon may recommend waiting for a few months. If there is no skin protecting the encephalocele, your baby’s neurosurgeon may recommend surgery soon after birth. In more complex cases, babies may have several surgeries done in stages. They may need surgery delayed until they are bigger, which makes surgery safer and easier on your child.

To treat an encephalocele, the neurosurgeon cuts and removes a piece of bone from your child’s skull. Next, the neurosurgeon cuts the membrane that protects the brain (dura mater). This part of the surgery (craniotomy) allows them to get to your child’s brain.

The neurosurgeon then replaces the brain tissue and any membranes or fluids that have come out of the hole in the skull. They remove the sac that surrounded it. Then the neurosurgeon closes the dura mater. They close the skull using the same piece of bone they removed, if possible. If there is a large hole in the skull, the neurosurgeon may use an artificial plate to close it.