Encephalocele is a rare type of neural tube defect (NTD) present
at birth that affects the brain. The neural tube is a narrow channel
that folds and closes during the third and fouth weeks of pregnancy
to form the brain and spinal cord. Encephalocele is described as 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 in the midline of the upper part of the skull,
the area between the forehead and nose, or the back of the skull.
Usually encephaloceles are found right after birth, but sometimes a
small encephalocele in the nose and forehead region can go
undetected
To learn more about encephalocele click on one of the following
links or scroll down the page.
What We Know About Encephalocele
- How often does encephalocele occur?
- What problems do children with encephalocele have?
What We Still Do Not Know About
Encephalocele
- What causes encephalocele?
- Can encephalocele be prevented?
Resources for Families and Individuals
Affected by Encephalocele
| What
We Know About Encephalocele |
How often does encephalocele occur?
CDC estimates that each year about 375 babies in the United States
are born with encephalocele (1). In other words, about 1 out of
every 10,000 babies born in the United States each year will have
encephalocele.
What problems do children with encephalocele have?
When located in the back of the skull, encephalocele often is linked
to nervous system problems. Encephalocele usually is seen with 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 movement of the voluntary muscles, such as
those involved in walking and reaching
- Developmental delay
- Vision problems
- Mental and growth retardation
- Seizures
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| What
We Still Do Not Know About Encephalocele |
What causes encephalocele?
Although the exact cause of encephalocele is unknown, scientists
believe that many factors are involved.
There is a genetic component to the condition, meaning it often
occurs among families with a history of spina bifida and
anencephaly. Some researchers also believe that certain
environmental exposures before or during pregnancy might be causes,
but more research is needed.
We at CDC work with many other researchers to study risk factors
that can increase the chance of having a baby with encephalocele, as
well as outcomes of babies with encephalocele. Following is an
example of what our research has found:
- Several factors appear to lead to lower survival rates for
infants with encephalocele, including preterm birth, low
birthweight, having multiple birth defects, and being Black or
African American (2).
Can encephalocele be prevented?
Currently, there is no known way to prevent encephalocele, although
steps can be taken to lower the risk. Recent studies have shown that
the addition of a B vitamin called folic acid to the diet of women
who might become pregnant can greatly reduce the number of babies
born with NTDs. CDC has recommended that all women of childbearing
age consume 400 micrograms of folic acid daily. A single daily
serving of most multivitamins and fortified cereals contain 400
micrograms of folic acid.
In addition, mothers can take steps before and during pregnancy to
be healthy, including not smoking and not drinking alcohol during
pregnancy.
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|
Resources for Families and Individuals Affected by
Encephalocele |
National Institute of Neurological Disorders and Stroke
National Organization for Rare Disorders
References
- Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins
JS, et al. National estimates and race/ethnic-specific variation
of selected birth defects in the United States, 1999-2001. Birth
Defects Res Part A Clin Mol Teratol. 2006;76(11):747–56.
- Siffel C, Wong LC, Olney RS, Correa A. Survival of infants
diagnosed with encephalocele in Atlanta, 1978-98. Paediatr
Perinat Epidemiol. 2003; 17:40-8.
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Date:
March 11, 2009
Content source: National Center on Birth Defects and Developmental
Disabilities
