Encephalocele is a rare type of birth defect of the neural tube that affects the brain. The neural tube is a narrow channel that folds and closes during the third and fourth weeks of pregnancy to form the brain and spinal cord. Encephalocele is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. Encephalocele happens when the neural tube does not close completely during pregnancy. The result is an opening anywhere along the center of the skull from the nose to the back of the neck, but most often at the back of the head (pictured), at the top of the head, or between the forehead and the nose.

How Many Babies are Born with Encephalocele?

Researchers estimate that about 1 in every 10,500 babies is born with encephalocele in the United States.

Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems.

Encephaloceles are usually dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Symptoms and associated abnormalities of encephaloceles may include:

• Hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain)
• Spastic quadriplegia (paralysis of the arms and legs)
• Microcephaly (abnormally small head)
• Ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching)
• Developmental delay
• Vision problems
• Mental and growth retardation
• Seizures

Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly.

Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive.

The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.

Although the exact cause of encephalocele is unknown, scientists believe that many factors are involved.

There is a genetic (inherited) component to the condition, meaning it often occurs in families that have family members with other defects of the neural tube: spina bifida and anencephaly. Some researchers also believe that certain environmental exposures before or during pregnancy might be causes, but more research is needed. CDC works with many other researchers to study factors that can

• Increase the risk of having a baby with encephalocele, or
• Impact the health outcomes of babies with encephalocele.

The following is an example of what CDC researchers have found:

• Several factors appear to lead to lower survival rates for infants with encephalocele, including preterm (early) birth, low birthweight, having multiple birth defects, or being black or African American.

CDC continues to study birth defects, such as encephalocele, and how to prevent them. For example, taking 400 micrograms of the B vitamin, folic acid, every day before and during early pregnancy can help prevent some major birth defects of the baby’s brain and spine, such as encephalocele. If you are pregnant or thinking about becoming pregnant, talk with your doctor about ways to increase your chances of having a healthy baby.

Usually encephaloceles are found right after birth, but sometimes a small encephalocele in the nose and forehead region can go undetected. An encephalocele at the back of the skull is more likely to cause nervous system problems, as well as other brain and face defects. Signs of encephalocele can include

• Buildup of too much fluid in the brain,
• Complete loss of strength in the arms and legs,
• An unusually small head,
• Uncoordinated use of muscles needed for movement, such as those involved in walking and reaching,
• Developmental delay,
• Intellectual disability,
• Vision problems,
• Delayed growth, and
• Seizures.

Encephalocele is treated with surgery to place the protruding part of the brain and the membranes covering it back into the skull and close the opening in the skull. However, neurologic problems caused by the encephalocele will still be present. Long-term treatment depends on the child’s condition. Multiple surgeries may be needed, depending on the location of the encephalocele and the parts of the head and face that were affected by the encephalocele.

Encephalocele is a rare type of birth defect of the neural tube that affects the brain. Encephalocele is a sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. To learn what it’s like to live with this condition or how families are affected, read this real story from people living with encephalocele.

Tatum’s Story – Written by her mom, Brandi

In October 2017, my husband and I went for an elective 4D ultrasound hoping for one last round of cute pictures of our girl. She had previously had normal scans, so our doctor advised that we did not need any further imaging before she was born. With the 4D ultrasound, we had hoped to see who she looked like and if she had any hair. Instead, the technician was very serious and pointed out what appeared to be a small growth above her nose. The technician told us that she did not want to alarm us but recommended that we follow up with our doctor to have it looked at. Of course, this sent me into “panic mode,” and we were able to get an appointment the next day with our doctor. Our doctor and the technician reviewed the photos taken at the 4D ultrasound studio and immediately sent us over to a specialty center for another ultrasound. A second ultrasound confirmed what we saw on the previous ultrasound, and we were referred for a fetal MRI.

My husband and I were both incredibly nervous on the morning of the MRI, but hopeful that the small growth was just a mole, birthmark, or soft tissue. A phone call later that afternoon confirmed our worst fears: our sweet baby girl had a frontal encephalocele. Encephalocele happens when the neural tube does not close completely during pregnancy. The result is an opening anywhere along the center of the skull from the nose to the back of the neck, often at the back of the head, at the top of the head, or between the forehead and the nose.

Shortly after diagnosis, we met with a pediatric neurosurgeon to discuss what all of this meant for our little one. After an incredibly emotional long weekend, we were given hope for an otherwise healthy, normal baby. We found out that encephalocele is an extremely rare neural tube defect (about 1 in 10,500 babies are affected) and typically occurs in the back of the skull in females. We are extremely lucky that hers is in the front of her skull impacting the right frontal lobe of her brain rather than the occipital area. Babies born with an occipital encephalocele only typically have about a 55% survival rate and can suffer lifelong complications. The neurosurgeon told us that the front of the brain is much more “forgiving” than the back and typically regulates personality (which you wouldn’t expect to change when operating on a newborn baby as they are developing personality as they grow). Fortunately, it was a relatively small encephalocele, measuring about 2.66 cm at its largest point. We were also told that the rest of her brain and all of her other organs appeared to be healthy, and her growth was right on target.

Tatum was scheduled to arrive via C-section a few days early to make sure she wouldn’t have any type of damage to the protruding tissue while coming though the birth canal. When she was born, we were overjoyed to see that the encephalocele was covered by skin. She was thoroughly examined by the hospital staff before they determined that she was healthy enough to go home with us for recovery until her first surgery. Tatum’s first surgery lasted approximately 5-6 hours and consisted of the removal of the protruding portion of her right frontal lobe and reconstruction of the bones that make up her face. She proved to us how tough she is by only taking Tylenol after having a major surgery. She was even able to go home after just three nights in the hospital.

Fast forward to Tatum’s second major surgery – which took more than 9 hours! The second surgery involved her neurosurgeon and a pediatric plastic surgeon. During her second surgery, the doctors removed the small, remaining portion of her non-functional right frontal lobe and completed a bone reconstruction of her eye sockets, forehead, and nasal bridge. The post-op appointments have all gone great and she healed very quickly. Tatum may need an additional repair around 8 years old with the plastic surgeon, but that determination will be made as she grows and matures. We have learned so much on this journey and are so thankful for our strong, tough, amazing little girl!