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Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet

Departments of Neurology (Drs. Synder. Roman-Campos, and McQuilleni and Pathology (Drs. Little and McQuillen). University of Vermont College of Medicine, Burlington, VT.

We describe the clinical presentation, course, pathologic findings, and biochemical abnormalities found in three adult siblings with an idiopathic lipid storage myopathy. The major presenting symptoms were weakness and cramping, which were profound in one patient, moderate in the second patient, and mild in the third. All three individuals exhibited true myotonic discharges on EMG, normal or mildly depressed muscle free carnitine levels, and borderline delayed ketosis (40 hours) with fasting. Muscle biopsies from all three showed neutral lipid storage. Polymorphonuclear leukocytes and macrophages were vacuolated. No systemic abnormalities of glucose or fat metabolism were identified at rest, with fasting, or with exercise. The two more severely affected patients have responded to medium-chain triglyceride diet and oral carnitine with increased strength and muscle bulk and decreased histochemically observed neutral lipid stores in muscle. One patient has had a resolution of the electrical myotonia. Prednisone therapy in one patient resulted in a loss of cramping sensations but not improvement in strength. We suggest that some cases of idiopathic lipid storage myopathy may be safely and effectivelv treated with carnitine and medium-chain trielyceride diet.

Address correspondence and reprint requests to Dr. Little, Department of Pathology. University of Vermont College of Medicine, Medical Alumni Building, Burlington, VT 05405.

This study was supported in part by the Muscular Dystrophv Association of America and by Grant No. GCRC RR-109 from the National Institute of Health.

Presented at the American Academy of Neurology Annual Meeting, New Orleans. LA, May 1980. Accepted for publication March 16. 1982.