RT Journal Article
SR Electronic
T1 Multiple symmetric lipomatosis
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 862
OP 862
DO 10.1212/WNL.44.5.862
VO 44
IS 5
A1 T. Klopstock
A1 M. Naumann
A1 B. Schalke
A1 F. Bischof
A1 P. Seibel
A1 M. Kottlors
A1 P. Eckert
A1 K. Reiners
A1 K. V. Toyka
A1 H. Reichmann
YR 1994
UL http://n.neurology.org/content/44/5/862.abstract
AB 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.