Encephalocele

Encephalocele is a rare, severe birth defect in which a portion of the baby’s brain protrudes out of a hole in the skull. The brain tissue is typically covered by a thin membrane, creating a sac-like protrusion.

In most cases, the defect is located on the back of the head or in the front between the nose and forehead, however an encephalocele can occur anywhere along the middle line of the skull.

A Birth Defect of the Central Nervous System

Encephalocele is a type of neural tube defect, birth defects of the central nervous system. Neural tube defects occur in the first few weeks of fetal development when a structure known as the neural tube, which develops into the baby’s brain, skull, spine and spinal cord, does not close completely.

In babies with encephalocele, the bones of the skull don’t fully fuse together, leaving a gap that allows part of the brain to stick out through the opening.

An encephalocele is sometimes referred to as a central nervous system (CNS) lesion.

Prognosis

Babies with an encephalocele are at increased risk of stillbirth. Newborns with these defects often don’t survive past infancy.  

The prognosis for each baby varies based on: 

• The size and location of the encephalocele
• The amount and type of brain tissue protruding out into the sac
• The presence of additional anomalies

Babies with an encephalocele at the back of the skull (posterior encephaloceles) have lower survival rates and are more likely to have neurological problems compared to when the defect is located in the front of the skull (anterior encephaloceles).

The presence of other birth defects or brain malformations will also affect your baby’s prognosis. About 50% of infants with encephalocele have additional congenital abnormalities, such as amniotic band syndrome.

How does encephalocele affect my child?

Common complications found in children born with encephalocele include:

• Developmental delays
• Intellectual disability
• Vision problems
• Seizures
• Lack of muscle control or coordination (ataxia)
• Smaller than normal head size (microcephaly)
• Progressive weakness and loss of strength in the limbs (spastic paraplegia)
• Growth problems

Cause and Risk Factors

Encephalocele occurs in an estimated 1 out of every 10,000 births in the United States.

The exact cause of encephalocele remains unknown. The defect occurs during the first few weeks of pregnancy.

Suspected risk factors include:

• Insufficient folic acid before and during pregnancy
• Families with a history of neural tube defects, including spina bifida and anencephaly
• Environmental factors

Diagnosis

Most encephaloceles are diagnosed during a routine ultrasound. In rare cases, diagnosis may not be made until birth.

If encephalocele is suspected or diagnosed during pregnancy, you may be referred to a fetal center for a comprehensive evaluation and specialized care. At Texas Children’s Fetal Center, we arrange for a detailed assessment by a team of specialists experienced in diagnosing and treating rare neural tube defects, including maternal-fetal medicine (MFM) physicians, fetal imaging experts, genetic counselors, neonatologists, neurologists, and pediatric neurosurgeons.

Additional testing may include:

• High-resolution anatomy ultrasound to confirm the diagnosis, evaluate the defect and identify other abnormalities
• Ultra-fast MRI for a more detailed view of the fetal brain and any other abnormalities
• Amniocentesis and chromosomal analysis to identify chromosomal anomalies

Following this thorough evaluation, our specialists will meet with you about your results, answer any questions your family has, and discuss your baby’s prognosis and treatment recommendations.

Pregnancy and Delivery

You and your baby will be closely monitored throughout pregnancy to watch for signs of complications. Risks during pregnancy include miscarriage and the need for a cesarean delivery, especially in cases involving a large encephalocele.

We recommend delivery at a hospital with the expertise and resources required to optimize outcomes for newborns with neural tube defects, including the highest level neonatal intensive care unit (NICU).

Our Fetal Center team works closely with pediatric experts from Texas Children’s Hospital, including a multidisciplinary team of craniofacial specialists dedicated to treating children with skull abnormalities, ensuring the best possible care for your baby every step of the way. Texas Children’s is consistently ranked one of the best children’s hospitals in the nation by U.S. News & World Report.

Treatment After Birth

Babies born with encephalocele typically require surgery after birth to move the protruding portion of the brain back into the skull and close the opening.

The timing of surgery will depend on the severity of the defect and the baby’s condition at birth. In complex cases, multiple procedures may be needed to repair the defect in stages. Babies who develop hydrocephalus, or excess fluid in the brain, will require a shunt (a hollow tube) surgically implanted in the brain for drainage.

Additional treatment and long-term care will be based on the needs of each child.

Postnatal Care Team

A unique and distinct advantage for mothers delivering at Texas Children’s Pavilion for Women is our location inside one of the largest and most renowned children’s hospitals in the world, for seamless access to the critical care services and specialists your child may need.

For babies with encephalocele, this means no transfers during critical postnatal periods. It also means that the pediatric specialists responsible for treating your child have been an integral part of their care team since before birth.

Your baby’s postnatal care team may include:

• Neonatologist
• Neurosurgeon
• Neurologist
• Reconstructive Plastic Surgeon
• Ophthalmologist
• Physical Medicine and Rehabilitation
• Developmental Pediatrics

Why Texas Children’s Fetal Center?

• A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby receive the specialized care required for the diagnosis and treatment of encephalocele all in one location, including immediate access to our level IV NICU, if needed.
• A skilled, experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, neonatologists, fetal imaging experts, pediatric neurosurgeons, and others who work in concert to care for you and your baby every step of the way, using proven protocols we’ve developed over the years. With their combined expertise and unified approach, this remarkable team offers the best possible care for babies with encephalocele.
• We care for your child’s needs at every stage of life. Our comprehensive approach starts with your first prenatal visit and continues through delivery, postnatal care, and childhood, thanks to one of the nation’s leading teams of fetal and pediatrics specialists for the treatment of rare neural tube defects.