Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact?
The case of a 33-year-old man with clinical features of mitochondrial encephalomyopathy is presented. He suffered from recurrent cerebral infarctions, cerebellar ataxia, deafness, retinopathy, weakness, and cardiac and renal disorders. Biochemical and light microscope investigations of skeletal muscle did not show any mitochondrial abnormality. Electron microscopy revealed the presence of a hitherto unreported peculiar "pilovacuolar" inclusion in numerous mitochondria, composed of an electron dense pile or rod within a vacuole, while globular or crystalline inclusions were absent.
Paulus
W
W
Institute of Brain Research, University of Tübingen, Federal Republic of Germany.
Stevens
A
A
Roggendorf
W
W
D000140:Acidosis, Lactic / Q000150:complications; D000328:Adult; D001927:Brain Diseases / Q000378:metabolism*; D002524:Cerebellar Ataxia / Q000150:complications; D002544:Cerebral Infarction / Q000150:complications; D002561:Cerebrovascular Disorders / Q000150:complications*; D003638:Deafness / Q000150:complications; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism* / Q000648:ultrastructure; D010641:Phenotype; D014617:Vacuoles / Q000378:metabolism*