Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue

Abstract

A case resembling the syndrome of “ophthalmoplegia plus” is reported. Chemical and morphological studies on biopsied tissue from the cerebellum, ocular, and somatic muscle revealed abnormal mitochondria in all three tissues. There were no abnormalities in cerebellar lipids. While this case is clinically similar to cases of ophthalmoplegia plus and has mitochondrial changes similar to oculocraniosomatic neuromuscular disease with “ragged-red” fibers, no “ragged-red” fibers or lipid accumulations were observed in any of the muscle tissue examined. Ophthalmoplegia plus may be a neurogenic rather than myopathic disorder with associated mitochondrial dysfunction.