[Mitochondrial diabetes complicated by or associated with "MELAS" syndrome?].
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.
Drouet
A
A
Service de neurologie, HIA Desgenettes, Lyon.
Guilloton
L
L
Godinot
C
C
Rochet
D
D
Ribot
C
C
Carrier
H
H
D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006801:Humans; D002546:Ischemic Attack, Transient / Q000150:complications / Q000235:genetics; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology; D017354:Point Mutation
D004272:DNA, Mitochondrial