These parents also need psychologic help and support. The absent brain is sometimes replaced by malformed cystic neural tissue, which may be exposed or covered with skin. Varying portions of the brain stem and spinal cord may be missing or malformed. No diagnostic or therapeutic efforts are helpful, and these newborns either are stillborn or die within days or weeks. Malformations of the cerebral hemispheres may occur.
Therapy is supportive, including anticonvulsants if needed to control seizures.
Encephaloceles usually occur in the midline and protrude from the occiput or into 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. Most encephaloceles should be repaired. Even large ones sometimes contain mostly heterotopic nervous tissue, which can be removed without leaving major functional disability. When other serious malformations coexist, the decision to repair may be more difficult.