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Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy

Minoru Oishi1, Kenji Miki, Akihiko Morita

  • 1Department of Neurology, Nihon University Nerima Hikarigaoka Hospital, Tokyo. oishimin@med.nihon-u.ac.jp

Internal Medicine (Tokyo, Japan)
|March 4, 2008
PubMed

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.

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