Familial schizencephaly

Dev Med Child Neurol. 1991 Nov;33(11):1010-2. doi: 10.1111/j.1469-8749.1991.tb14817.x.


Familial cases of schizencephaly hitherto have been associated with readily diagnosable metabolic conditions or malformation syndromes. Where such associations are absent, it is usually considered to be a sporadic event without a genetic contribution. Described here are a brother and sister with identical bilateral symmetrical schizencephaly. Genetic counselling must therefore allow for the possibility of an autosomal recessive form of this condition.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / diagnostic imaging
  • Epilepsy, Tonic-Clonic / diagnostic imaging
  • Epilepsy, Tonic-Clonic / genetics*
  • Female
  • Humans
  • Male
  • Muscle Spasticity / diagnostic imaging
  • Muscle Spasticity / genetics
  • Quadriplegia / diagnostic imaging
  • Quadriplegia / genetics*
  • Tomography, X-Ray Computed