Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts

We report a case of ragged-red fiber myopathy with abnormal mitochondria also present in the heart. Neither diffuse spongiosis nor abnormal mitochondria could be found in the CNS, but there were multiple areas of infarction in the brain, without vascular pathology. These infarcts appeared to be due to the cardiomyopathy, either from cardiac failure or embolism. This case may be included in the group of Kearns-Sayre syndrome or represent a new variant among mitochondrial myopathies.