Encephalocele

What is an encephalocele?

An encephalocele (en-SEF-a-lo-seal) is a birth defect that happens because part of the skull does not close all the way before a baby is born. As the fetus grows, the neural tube that forms the brain and spinal cord does not close properly. Part of the baby's brain may come through the hole in the skull, along with the membrane that covers the brain and cerebrospinal fluid (CSF).

Encephalocele can happen in any part of a baby's skull. The back of the head is most common. Sometimes an encephalocele is in the front of the head, between the nose and forehead. How the encephalocele affects your child depends on its size and location. 

Doctors do not know the exact cause. Research suggests that genes and nutrients during pregnancy play a role. Getting enough vitamin B (folic acid) early in pregnancy helps the neural tube grow properly into the baby's brain and spinal cord.

What are the symptoms of encephalocele?

An encephalocele looks like a sac of tissue sticking out through a hole in the skull. You can see it at birth, unless it is very small. Some babies with encephalocele have:

• 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

How is ecephalocele diagnosed?

Doctors diagnose most encephaloceles at birth, when they see a bulge on the baby’s head and a divide (cleft) in the skull or facial bones.  

They may not diagnose very small encephaloceles until later. For example, this can happen if the encephalocele is small and near the baby's nose, sinuses and forehead.

Sometimes, doctors find the problem during regular pregnancy screenings such as a fetal ultrasound. Your doctor may refer you to our Fetal Care and Treatment Center. We work with your birth hospital to plan for your baby's delivery and the treatment they will need.

How is encephalocele treated?

Your child's neurosurgeon will work closely with other experts at Seattle Children's to assess and treat your child. As needed, experts from Craniofacial, Plastic Surgery, Ophthalmology and Endocrinology will care for your child. Seattle Children's Neurosurgery team is among the most experienced in the nation and the most experienced by far in the Pacific Northwest.

Most babies with an encephalocele need surgery to repair the defect. Some babies also need a shunt to drain cerebrospinal fluid (CSF) from around their brain.

Many children also need surgery to rebuild bones in their skull or face. A neurosurgeon and craniofacial plastic surgeon work as a team on your child’s surgery. Seattle Children’s cares for thousands of children with craniofacial conditions each year. 

Some children may need rehabilitation to overcome brain damage or developmental delay. Each child is different, and we tailor treatment to your child and family.

Surgery for Encephalocele

Most often, neurosurgeons repair encephaloceles within the first few months of life.  

• If there is no skin protecting the encephalocele, your baby’s neurosurgeon may recommend surgery soon after birth.  
• If skin covers and protects your baby’s encephalocele, it may be best to wait a few months. Sometimes it is safer and easier for a baby to have surgery when they are bigger.
• In more complex cases, babies may have surgeries in several stages.  

If your child’s encephalocele is at the base of their skull, often the neurosurgeon repairs it by doing surgery through the nose or mouth, without having to cut your child’s skull. This is called nasal endoscopic neurosurgery.  

For an encephalocele in other places, the neurosurgeon will cut and remove part of your child’s skull (craniotomy) and cut the membrane that protects the brain (dura mater). After removing extra tissue, the surgeon closes the dura mater and then closes the skull. The surgeon may use the same piece of bone removed at the start of surgery or, less often, an artificial plate. 

Treating Related Conditions

Some children with encephaloceles have other conditions that need treatment, such as:

• Hydrocephalus, where too much CSF collects in their head and puts pressure on their brain. Most often, neurosurgeons place a tube (called a shunt) in the skull to drain CSF to another part of the body where it is absorbed.  
• Craniofacial conditions: Seattle Children’s Craniofacial Center team is among the most experienced in the world.  
  Pituitary problems: Seattle Children’s endocrinology experts treat children with disorders related to hormones and the glands that make them. 
• Vision changes: Our Ophthalmology Program provides complete, coordinated diagnosis and treatment of pediatric eye disorders. 
• Developmental delays: Experts in neurodevelopment provide ongoing developmental care through 21 years of age. We tailor services to your child and family.

Why choose Seattle Children's for encephalocele care?

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

We bring together experts from many medical specialties — such as Neurosurgery, Craniofacial, Plastic Surgery, Ophthalmology and Endocrinology —  to care of your child.

Children with encephaloceles may have other complex problems. Some children have differences in their skull and facial bones (craniofacial conditions). Some may have problems with their pituitary gland or vision. CSF may build up in their brain (hydrocephalus). We have lots of experience treating children with these related conditions.

If a doctor finds an encephalocele during pregnancy, experts at our Fetal Care and Treatment Center can assess your baby's health. We help you and your pregnancy providers prepare for the treatment your baby will need at birth and after.

We work closely with your birth hospital and are national leaders in safely moving fragile newborns. Our Level 4 (IV) Neonatal Intensive Care Unit (NICU) team is skilled and equipped to care for the sickest newborns. We provide specialized care in our Neuro NICU — the only neonatal neurocrital care program in Washington, Wyoming, Alaska, Montana and Idaho.

If your child has lasting effects from an encephalocele, experts in neurodevelopment and craniofacial conditions will provide ongoing medical and developmental care through 21 years of age.