Progression of myopathology in Kearns-Sayre syndrome: a morphological follow-up study

Acta Neuropathol. 1993;85(6):679-81. doi: 10.1007/BF00334681.

Abstract

We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers. Myopathic changes were slight including internal nuclei and fiber splitting in 10% of the fibers. Electron microscopy revealed typical mitochondrial abnormalities with regard to number and shape. In 1989 a second biopsy was performed for an extended analysis of mitochondrial DNA. This time less than 5% of all fibers were ragged-red. Severe myopathic changes could be detected which so far has rarely been reported in mitochondrial cytopathy.

Publication types

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

MeSH terms

  • Blotting, Southern
  • Cytochrome-c Oxidase Deficiency
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Kearns-Sayre Syndrome / pathology*
  • Male
  • Middle Aged
  • Mitochondria, Muscle / ultrastructure
  • Muscles / pathology*