Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case.
A case of a unique combination of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) with acanthocytosis is reported. Neuropathological examination revealed pellagra-like change in Betz cells, brain-stem neurons and anterior horn cells as well as findings compatible with mitochondrial encephalomyopathies. Abnormal function of nicotinic acid-related enzymes could be the cause of the complicated clinicopathologic findings in this case. This is the first report of MELAS with acanthocytosis.
D000050:Acanthocytes / Q000473:pathology*; D000138:Acidosis / Q000473:pathology*; D000328:Adult; D001037:Aphasia / Q000473:pathology*; D001284:Atrophy; D001706:Biopsy; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000473:pathology; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D006801:Humans; D007773:Lactates / Q000097:blood*; D019344:Lactic Acid; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009474:Neurons / Q000473:pathology; D013788:Thalamus / Q000473:pathology
D007773:Lactates; D019344:Lactic Acid