Familial schizencephaly

Brain Dev. 1993 May-Jun;15(3):234-6. doi: 10.1016/0387-7604(93)90072-g.

Abstract

Schizencephaly is a brain malformation characterized by infolding of cortical gray matter along a hemispheric cleft near the primary cerebral fissures. Although the etiology is unknown, genetic counseling has not been advocated because of its sporadic occurrence. We describe a family with two affected siblings. Both cases were characterized by hemiparesis, lack of gestational or postnatal complications, and diagnostic radiologic findings. We raise the possibility of a genetic etiology in some cases of schizencephaly and suggest a re-examination of the need for genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Child
  • Female
  • Genetic Diseases, Inborn / pathology*
  • Humans
  • Magnetic Resonance Imaging