Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.
A 44-year-old woman with mitochondrial encephalomyopathy noticed weakness of the lower extremities at the age of 30 years. She also has type 2 diabetes mellitus, posterior subcapsular cataracts in both eyes, and corpus callosum atrophy. Family history showed that a maternal cousin had a myopathy, 3 maternal aunts had diabetes mellitus, and her mother and 2 maternal aunts had cataracts. External ophthalmoplegia, proximal myopathy, and absent deep tendon reflexes were noted. The mitochondrial DNA 3243 point mutation was negative. Muscle biopsy showed ragged-red fibers, cytochrome c oxidase (COX)-positive fibers, and COX-negative fibers.
Oishi
Minoru
M
Department of Neurology, Nihon University Nerima Hikarigaoka Hospital, Tokyo. oishimin@med.nihon-u.ac.jp
Miki
Kenji
K
Morita
Akihiko
A
Fujioka
Kazumi
K
Aoki
Shigeki
S
Nishino
Ichizo
I
Nonaka
Ikuya
I
Goto
Yu-ichi
Y
Mizutani
Tomohiko
T
D000328:Adult; D002386:Cataract / Q000150:complications; D003337:Corpus Callosum / Q000473:pathology*; D048909:Diabetes Complications; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D008609:Mental Status Schedule; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000503:physiopathology*; D009133:Muscular Atrophy / Q000150:complications / Q000473:pathology; D010375:Pedigree