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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 23A3 (Case 23) Muscle_010 - Copy
There is little mitochondrial pathology in this case; however, there are enlarged forms associated with lipid droplets and one markedly enlarged, pleomorphic form with disorganized cristae associated lipid droplets and intracytoplasmic invagination. There is a mild increase in the number of mitochondria, some of which have mildly abnormal morphology. There is abundant glycogen, some of which is membrane bound. ---- The Neuromuscular/Neuropathology Divisions interpretation was that the mildly abnormally shaped mitochondria and slight increase in their number are not to the extent typically seen in mitochondrial myopathy. There is no mitochondrial pathology on SDH or COX stains. However, studies show a mitochondrial disorder with Coenzyme Q10 deficiency. Complex II, Complex II+III and Complex IV activities are reduced. Other mitochondrial oxidative enzyme activity levels are normal. Coenzyme Q10 level is zero. Citrate synthase level is reduced. This merits a diagnosis of mitochondrial myopathy.
