Neuropathy and mitochondrial myopathy

It has been stated that peripheral neuropathy can be a feature of so-called ophthalmoplegia-plus syndrome, but to date only one case of hypertrophic neuropathy has been reported. This study is concerned with the clinical, electrophysiological, and pathological observations in a 37-year-old man with progressive external ophthalmoplegia and a ragged-red fiber myopathy associated with severe sensorimotor neuropathy. Histological and morphometric studies of the sural nerve revealed a marked loss of large myelinated fibers and an occasional degenerating axon. Residual fibers had disproportionately thin myelin sheaths in relation to axon calibers. In contrast to the muscle biopsy findings, no mitochondrial paracrystalline inclusions were observed in the nerve. However, the number of mitochondria per square micron of Schwann cell cytoplasm was elevated when compared with values obtained from normal subjects and a patient with a chronic neuropathy. These findings may indicate an alteration of mitochondrial function common to muscle fibers and Schwann cells which, in nerves, could lead to axon loss and abnormality of myelination.