Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan

Brain Dev. 1992 Nov;14(6):420-2. doi: 10.1016/s0387-7604(12)80353-6.

Abstract

The term "congenital muscular dystrophy (CMD)" is used for a group of diseases with heterogeneous clinical and cranial CT scan manifestations. Recently, a distinct subtype, characterized by white matter hyperlucency on CT scan but normal or nearly normal intellectual function, has been recognized in Western peoples and has even been named "occidental-type cerebromuscular dystrophy." Here, we described two Chinese siblings with this type of CMD.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Muscles / pathology
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnostic imaging
  • Muscular Dystrophies / pathology
  • Tomography, X-Ray Computed