encephalocele

Etiology: - failure of the neural tube to close completely during fetal development Pathology: 1) congenital gap in skull with herniation of brain - groove down the midline of the upper part of the skull 2) often accompanied by craniofacial abnormalities or other cephalic malformations Genetics: - often a family history of spina bifida &/or anencephaly Clinical manifestations: 1) generally obvious malformation diagnosed at birth 2) occasionally a small encephalocele in nasal & forehead region can go undetected 3) hydrocephalus 4) spastic quadriplegia 5) microcephaly 6) ataxia 7) developmental delay 8) vision problems 9) mental retardation 10) seizures 11) intelligence may be normal Management: 1) surgery during infancy a) place the protruding tissues back into the skull b) correct the associated craniofacial abnormalities c) even large protrusions can often be reduced without major functional disability d) hydrocephalus may require ventriculoperitoneal shunt 2) other treatment is symptomatic & supportive 3) prognosis depends on a) the type of brain tissue involved b location of the herniations, c) accompanying brain malformations

General

neural tube defect cephalic malformation

References

`) NINDS Encephaloceles Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Encephaloceles-Information-Page