Encephaloceles

Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the meninges (the membranes that cover the brain) and brain tissue through abnormal openings in the skull. The defects are caused by failure of the neural tube to close during the development of the fetus. Symptoms (problems) may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of all 4 limbs), developmental delay, microcephaly (small brain), vision problems, mental and growth retardation, ataxia (uncoordinated or unsteady movements) or (lack of muscle control), and seizures (convulsions). Some affected children may have normal intelligence. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

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. Hydrocephalus may require a shunt. Other treatment is symptomatic and supportive.

PROGNOSIS

The prognosis (likely outcome) for individuals with encephaloceles varies depending on what brain tissue is involved, the location of the sacs, and the accompanying brain malformations.