Fukuyama congenital muscular dystrophy in two Australian female siblings

Dev Med Child Neurol. 1990 Sep;32(9):808-13. doi: 10.1111/j.1469-8749.1990.tb08486.x.

Abstract

The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling are identical to MRI changes in the surviving sibling.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Australia
  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Neurologic Examination