Indexed on: 01 Dec '74Published on: 01 Dec '74Published in: Journal of Neurology
Report on a 37-year-old woman suffering for 22 years from a peculiar, clinically unclassifiable myopathic syndrome. Repeated laboratory investigations and clinical examinations failed to reveal any abnormality. Enzyme histochemical and electron microscope investigations of muscle biopsies disclosed an elevation of mitochondria and particularly of lipid droplets in the muscle fibers of type I, with no other mitochondrial abnormalities.This case corresponds to the “lipid storage myopathy” recently described by English and American authors. Although the nature of this process is probably dysmetabolic, it is as yet uncertain whether it is a genuine “storage disease”, i.e. an inborn error of metabolism. It seems more probable that it is a plurigenetic tissue syndrome. We believe therefore that the simple morphological definition “sudanophilic (mitochondrial) myopathy” is a more appropriate designation for this process.The myopathy apparently responds to treatment with steroids.