What is an encephalocele?
An encephalocele is a birth difference in which an opening in the skull allows a section of the brain and its coverings to bulge out into a sac. Encephaloceles typically form at the back of the skull (occipital) or sometimes at the front of the head, between the forehead and nose (frontal, nasal orbital, or nasopharyngeal).
What causes an encephalocele?
The exact cause of an encephalocele is unknown. It happens during pregnancy, in the earliest stages of development of a baby, when the neural tube (which becomes the brain and spinal cord) does not close entirely (typically by the 4th week of pregnancy).
The Centers for Disease Control and Prevention (CDC) estimates that 1 in 12,200 babies born in the United States each year will have encephalocele. That means approximately 340 U S. babies are born with this condition each year. Sometimes encephaloceles and related conditions run in families, but the majority are isolated occurrences.
An encephalocele can be associated with other birth differences including:
- Agenesis of the corpus callosum
- Cortical atrophy
- Ventricular dilatation
How is an encephalocele diagnosed?
An encephalocele can be diagnosed prenatally by:
- Prenatal ultrasound
- Prenatal MRI
- Maternal Serum AFP (Alpha-Fetoprotein) (rarely)
In the remaining cases, the sac is identified at birth. Doctors recognize an encephalocele when there is a sac-like protrusion through a hole in the skull, containing varying amounts of intracranial contents and membranes.
What is the treatment?
Although each child’s treatment plan is unique, surgical repair is essential to avoid infection or further injury to the brain tissue. Often, the procedure involves removal or reduction of the herniated tissue, membranes, and repair of any bone involved.
After surgical repair, neurologic deficits caused by the encephalocele or other brain abnormalities (when present) will remain. Other abnormalities may also be corrected through surgery, especially hydrocephalus. If hydrocephalus is present, a special drain, called a shunt, may need to be placed from the skull to the abdomen to remove the fluid and prevent pressure from damaging the brain.
Each child’s prognosis depends on the amount of tissue in the sac that needs to be removed, and the function of the remaining tissue and intracranial structures. In some cases, children will need multiple surgeries. If a child has other genetic or developmental concerns, this can also impact their prognosis.
What are the possible complications of an encephalocele
- Delayed development
- Feeding difficulties
- Water on the brain (hydrocephalus)
- Breathing problems
- Hearing problems
- Vision problems
- Smaller than normal head
- Weakness of the arms and legs
- Stiffness of the arms and legs
- Learning difficulties
- Abnormally wide-set eyes
- Repeated respiratory tract infections
Want a second opinion?
If you’ve recently received a diagnosis or would like a second opinion, experience matters. We're happy to share our expertise with you. Call (816) 855-1800 to make an appointment with our team.
Why choose Children's Mercy?
Babies with an encephalocele may require immediate neurosurgical attention to prevent infection. At Children's Mercy, our highly experienced specialists in the Fetal Health Center, Neurosurgery and Neonatology work as an integrated team to care for your baby. Our family-centered and team-based approach is designed to encourage you to make informed decisions while promoting the best possible health and quality of life in children with neurologic birth differences.