[Studies of the clinicopathological changes of eight patients with lipid storage myopathy].

OBJECTIVE: The clinicopathological analysis of eight patients with lipid storage myopathy are presented. The pathogeny and therapeutic effect are probed into. METHODS: Eight cases of lipid storage myopathy diagnosed by muscle biopsies with microscopic and electron-microscopic examination are analyzed. Quadriceps or biceps were biopsied. Muscle samples were stained with routine histology and histochemical enzyme and inspected by microscopy. Thin sections were stained with uranyl acetate followed by lead citrate prior to examination in a electron microscopy. Also, the therapeutic drugs of eight patients were evaluated. RESULTS: Vacuole or crack of muscular fibers involved all eight patients. Sudan Black B and Oil Red O stains demonstrated increase of lipid droplets within muscle fibers. Ultrastructural examination revealed numerous lipid droplets dispersed throughout the residual myofilaments. Three cases with pathologic changed muscular fibers occupying less than 1/5 were belong to low-grade, two cases (between 1/5 to 1/3) were moderate, three cases (more than 1/2) were severe. There was one case accompanying glycogen storage disease. One case was concomitant with deficiency of cytochrome C oxidase. After prednisone treatment, seven cases had greatly improved and one case failed to respond to. Treatment using vitamin B(2) together with other vitamins brought about a striking effect. Carnitine was very effective on the patients with system deficiency of carnitine. CONCLUSIONS: The pathogeny of lipid storage myopathy is varied. The confirmed diagnosis is depend on pathological features of muscle biopsy. Treatment with prednisone, carnitine, vitamins and food containing carnitine rich is very effective. It should be select the special treatment method if the pathogeny is clear.