Muscular glycogen storage diseases without increased glycogen content on histopathological examination

Mol Genet Metab. 2007 Aug;91(4):370-3. doi: 10.1016/j.ymgme.2007.04.012. Epub 2007 May 30.

Abstract

Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. It can be concluded that non-specific findings or even normal appearance of a muscle biopsy does not exclude mGSD.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Glycogen / metabolism*
  • Glycogen Storage Disease / metabolism
  • Glycogen Storage Disease / pathology*
  • Humans
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / ultrastructure

Substances

  • Glycogen