[Mitochondrial diabetes complicated by or associated with "MELAS" syndrome?]

Rev Neurol (Paris). 2000 Oct;156(10):892-5.
[Article in French]

Abstract

We report the case of fifty-two year-old mentally deficient female who presented with diabetes mellitus, deafness, stroke-like episodes, cardiomyopathy, and macular pattern dystrophy of the retina. Her brain exhibited calcification within basal ganglia, lactacidaemia was not increased. Although her skeletal muscles had never been clinically impaired, a quadriceps biopsy led to the diagnosis of mitochondrial disease because it exhibited ragged red fibers and heteroplasmic point-mutation at position 3243 of the mitochondrial DNA, although not any detectable respiratory chain complex deficiency was found. The mutant percentage in muscle was 70 p.100 and 5 to 10 p.100 in leukocytes. The question of whether a diabetic microangiopathy may be responsible stroke-like episodes is discussed. We suggest it was rather a complicated form of diabetes-deafness than a incomplete MELAS syndrome associated with mitochondrial diabetes.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Brain / pathology
  • Brain Diseases / diagnosis
  • Brain Diseases / genetics
  • Calcinosis / diagnosis
  • Calcinosis / genetics
  • Cardiomyopathies / complications
  • Cardiomyopathies / genetics
  • DNA, Mitochondrial / genetics*
  • Deafness / complications
  • Deafness / genetics
  • Diabetes Complications
  • Diabetes Mellitus / genetics*
  • Female
  • Humans
  • Ischemic Attack, Transient / complications
  • Ischemic Attack, Transient / genetics
  • MELAS Syndrome / complications
  • MELAS Syndrome / genetics*
  • Macular Degeneration / complications
  • Macular Degeneration / genetics
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mitochondria, Muscle / pathology
  • Point Mutation*

Substances

  • DNA, Mitochondrial