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Encephalocele

By

Stephen J. Falchek

, MD, Nemours/Alfred I. duPont Hospital for Children

Last full review/revision Dec 2018| Content last modified Dec 2018
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An encephalocele is a protrusion of nervous tissue and meninges through a skull defect.

An encephalocele is caused by incomplete closure of the cranial vault (cranium bifidum). Encephaloceles usually occur in the midline and protrude anywhere along a line from the occiput to the nasal passages but can be present asymmetrically in the frontal or parietal regions. Small encephaloceles may resemble cephalhematomas, but x-rays show a bony skull defect at their base. Hydrocephalus Hydrocephalus Hydrocephalus is accumulation of excessive amounts of CSF, causing cerebral ventricular enlargement and/or increased intracranial pressure. Manifestations can include enlarged head, bulging... read more Hydrocephalus often occurs with encephalocele. About 50% of affected infants have other congenital anomalies. Symptoms and signs of encephalocele include the visible defect, seizures, and impaired cognition, including intellectual and developmental disability.

Prognosis depends on the location and size of the lesion. Most encephaloceles can be repaired. Even large ones often contain mostly heterotopic nervous tissue, which can be removed without worsening functional ability. When other serious malformations coexist, the decision to repair may be more difficult.

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