A case resembling the syndrome of “ophthalmoplegia plus” or “oculocranio-somatic neuromuscular disease” is reported. A biopsy of deltoid muscle showed that 23% of the fibers were “ragged-red fibers” and were all type 1. Study of their ultrastructure revealed clusters of abnormal skeletal muscle mitochondria in subsarcolemmal and intermyofibrillar spaces. A liver biopsy also revealed a considerable increase in the number and size of the mitochondria. In some instances the mitochondria contained osmiophilic rounded inclusions surrounded by myelin-like structures. Metabolic studies revealed an increase of blood lactate concentration after very light exercise, while the O2 consumption was increased within the expected range. It is concluded that: a) the association of opthalmoplegia and ultrastructural alterations of the mitochondria in muscle fibers may represent a specific nosographic entity; b) mitochondrial abnormalities are not limited to the skeletal muscles and c) the dysmetabolic basis of such a clinico-pathological entity might lie in an alteration of the mechanism which regulates the mitochondrial oxidative phosphorylation.
|Number of pages||12|
|Journal||Journal of Neuropathology and Experimental Neurology|
|Publication status||Published - 1978|
ASJC Scopus subject areas
- Clinical Neurology
- Pathology and Forensic Medicine
- Cellular and Molecular Neuroscience