Encephaloceles
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What are Encephaloceles?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat are Encephaloceles?
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. Usually encephaloceles are 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, and 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 in family members.
Is there any treatment?
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.
What is the prognosis?
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.
What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The
knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and
offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 12, 2007
