Encephalocele

Encephalocele is a rare type of neural tube birth defect that affects the brain. The neural tube is a narrow canal that curves and closes during the third and fourth weeks of pregnancy to form the brain and spinal cord. An encephalocele is a sac-like protrusion or protrusion of the brain and its covering membranes through a hole in the skull. An encephalocele occurs when the neural tube does not close completely during pregnancy. The result is a hole anywhere in the center of the skull from the nose to the back of the neck, but most often at the back of the head, on the top of the head, or between the forehead and nose.

Causes

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

This condition has a genetic (hereditary) component, meaning it often occurs in families that have family members with other neural tube defects: spina bifida and anencephaly. Some researchers also believe that certain environmental exposures before or during pregnancy may be the cause, but more research is needed.

Several factors appear to lead to lower survival rates for infants with encephalocele, including premature (early) births, low birth weight, and multiple birth defects.

Diagnostics

Usually an encephalocele is detected immediately after birth, but sometimes a small encephalocele in the nose and forehead can go unnoticed. An encephalocele at the back of the skull is more likely to cause problems with the nervous system, as well as other defects in the brain and face. Signs of an encephalocele may 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.

Treatment

Encephalocele is treated with surgery to place the protruding part of the brain and the membranes that cover it back into the skull and close the hole in the skull. However, neurological problems caused by an encephalocele will always be present. The duration of treatment depends on the condition of the child. Several surgeries may be required, depending on the location of the encephalocele and the parts of the head and face affected by the encephalocele.

Related Links

• Limb reduction defects
• Down syndrome: Trisomy 21
• What is an undescended testicle?
• What is spina bifida?