ISSN:
1432-1459
Keywords:
Mitochondrial encephalomyopathy
;
MELAS
;
Acanthocytosis
;
Pellagra
;
Ragged-red fibres
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00314025
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