Bilateral perisylvian polymicrogyria in three generations

Neurology. 1999 Jun 10;52(9):1910-3. doi: 10.1212/wnl.52.9.1910.

Abstract

A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / pathology
  • Brain / physiopathology
  • Cerebral Cortex / abnormalities*
  • Child
  • Electroencephalography
  • Epilepsy / genetics*
  • Epilepsy / physiopathology*
  • Female
  • Functional Laterality / physiology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree