ISSN:
1432-0533
Keywords:
Key words Mitochondrial encephalomyopathy
;
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
;
MELAS
;
Ragged-red fiber
;
3243 point
;
mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004010050863
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