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Departments of Neurology, University of Würzburg, Germany. (Drs. Klopstock, Naumann, Schalke, Seibel, Reiners, Toyka, and Reichmann, and F. Bischof and M. Kottlors)
Departments of Plastic Surgery, University of Würzburg, Germany. (Dr. Eckert)
Article abstract –Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large nonencapsulated lipomas distributed around the neck, shoulders, and other axial regions. Neurologic involvement, particularly peripheral neuropathy, is frequent. The pathogenesis of the syndrome is still unknown, but ragged-red fibers are occasionally present in muscle of affected patients, suggesting a mitochondrial abnormality. We studied 11 unrelated patients with MSL by means of neurophysiology, muscle morphology, muscle biochemistry, Southern blot, and PCR analysis of mitochondrial DNA. All patients were men aged 41 to 63 years. Clinical or electrophysiologic signs of a sensorimotor polyneuropathy were present in nine patients, eight of whom had a history of alcoholism. In muscle biopsy specimens, the most prominent feature was pathologic subsarcolemmal aggregates of mitochondria. Biochemical analysis of respiratory chain enzymes revealed a moderate but significant decrease of cytochrome c oxidase activity as compared with age-matched controls. In one patient, Southern blot analysis showed multiple deletions of mitochondrial DNA. We conclude that mitochondrial dysfunction is common in MSL and may be based on identifiable defects in the mitochondrial genome.
Address correspondence and reprint requests to Dr. Heinz Reichmann, Neurologische Universitätsklinik, Josef-Schneider-Str. 11, 97080 Würzburg, Germany.
Supported by a research grant from the Deutsche Forschungsgemeinschaft (Re 26518-2). T.K. acknowledges a scholarship by the Deutsche Forschungsge-meinschaft (Kl 795/1-1).
Presented in part at the 45th annual meeting of the American Academy of Neurology, New York, NY, April 1993.
Received August 13, 1993. Accepted for publication in final form October 26, 1993.
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