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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 11A1 Mitochondrial myopathy (Case 11) EM - Copy
Case 11 History ---- The patient is a two year old girl with a differential diagnosis including rule out mitochondrial disease. Operative procedure: Right quadriceps biopsy. ---- 11A1 Ultrastructural study shows aggregates of mitochondria in a subsarcolemmal distribution as well as within the sarcoplasm of scattered muscle fibers. The accumulated mitochondria range from increased numbers of otherwise normal appearing small mitochondria to very large mitochondria with disorganized cristae which form unusual shapes. No intramitochondrial crystalline tactoids are seen. (electron micrographs) ---- Not shown: One-micron thick, toluidine blue stained sections of the plastic embedded muscle show focal aggregates/deposits of poorly identified material in a subsarcolemmal distribution involving some of the fibers. SDH and cytochrome oxidase histochemistry are normal. There is no storage material on PAS or Sudan. Mitochondrial enzyme activity shows a mild increase in SDH but an increase in cytochrome oxidase. ---- By ultrastructure alone this would represent mitochondriopathy.
