Pathological findings of the sural nerve in mitochondrial encephalomyopathy

We examined the muscle and peripheral nerve of a 55-year-old woman with familial mitochondrial encephalomyopathy. In the gastrocnemius muscle, many ragged red fibers and mitochondria containing paracrystalline inclusions in those fibers were observed by light and electron microscopy, respectively. Histopathological studies of the sural nerve revealed a marked decrease in the number of large myelinated fibers. Electron microscopic studies showed an accumulation of glycogen particles and mitochondria containing abnormal, structurally obscure cristae in the Schwann cell cytoplasm. These results suggest that the cause of loss of the large myelinated fibers may be some disturbance of metabolism in the Schwann cells due to mitochondrial dysfunction.