Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy |
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Authors: | T Kuroiwa Takeshi Kuwata Takahiro Nakayama Tamiko Takemura Manabu Sakuta Shizuko Ichinose Yu-ichi Goto Riki Okeda |
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Institution: | (1) Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, Yushima 1-5-45, Bunkyo-ku, Tokyo 113, Japan Tel.: 81-3-5803-5848; Fax: 81-3-5803-0248; e-mail: t.kuroiwa.npat@mri1.mri.tmd.ac.jp, JP;(2) Department of Immunology and Pathology, Tokyo Medical and Dental University, Tokyo, Japan, JP;(3) Department of Neurology, Japanese Red Cross Medical Center, Tokyo, Japan, JP;(4) Department of Pathology, Japanese Red Cross Medical Center, Tokyo, Japan, JP;(5) Laboratory of Electron Microscopy, Tokyo Medical and Dental University, Tokyo, Japan, JP;(6) National Center of Neurology and Psychiatry, Tokyo, Japan, JP |
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Abstract: | A 40-year-old woman who developed intestinal dysmobility was found, at rectal biopsy, to have marked microvacuolation of
mucosal muscle layer cells, which corresponded to increased accumulation of abnormal mitochondria. Skeletal muscle biopsy
specimens showed ragged-red fibers, vessels strongly reactive for succinic dehydrogenase, and focal deficiency of cytochrome
c oxidase. Autopsy performed at the age of 50 revealed prominent accumulation of abnormal mitochondria in the intestinal smooth
muscle cells with a mottled distribution of focal necrosis, multiple small cerebral infarcts with diffuse neuronal loss, and
rarefaction of the perivascular white matter. Mitochondrial DNA analysis showed a point mutation at position 3243. This case,
showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy,
lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial encephalomyopathy
with gastrointestinal involvement. The main intestinal changes were extensive accumulation of abnormal mitochondria in the
leiomyocytes and scattered focal necrosis.
Received: 13 July 1997 / Revised, accepted: 1 December 1997 |
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Keywords: | Mitochondrial encephalomyopathy Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) MELAS Ragged-red fiber 3243 point mutation |
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