Schizencephaly: case report of familial incidence

Pediatr Neurol. Mar-Apr 1992;8(2):148-50. doi: 10.1016/0887-8994(92)90039-2.

Abstract

Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. Family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / abnormalities*
  • Brain / pathology
  • Cerebral Palsy / diagnosis
  • Cerebral Palsy / genetics*
  • Dominance, Cerebral / genetics
  • Dominance, Cerebral / physiology
  • Epilepsy, Generalized / diagnosis
  • Epilepsy, Generalized / genetics*
  • Female
  • Hemiplegia / diagnosis
  • Hemiplegia / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging*
  • Male
  • Neurologic Examination
  • Tomography, X-Ray Computed*