Encephaloceles
- Article
- 2021-03-09
Encephaloceles are rare neural tube defects characterized by sac-like projections of the brain and the membranes that cover them through openings in the skull. These defects are caused by the neural tube not closing completely during fetal development. The result is a furrow along the midline of the top 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 malformations diagnosed immediately after birth, but occasionally a small encephalocele in the nose and forehead may go unnoticed. Encephaloceles are often associated with craniofacial anomalies 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 walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. The condition has a genetic component; it often occurs in families with a history of spina bifida and anencephaly in relatives.
Therapy
Generally, surgery is performed during childhood to put 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 serious functional limitations. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatments are symptomatic and supportive.
Prognosis
The prognosis for individuals with encephalocell varies depending on the type of brain tissue involved, the location of the sacs, and the associated brain malformations.
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