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Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The pathoetiology of lipoma tissue in MSL remains unresolved. Seven patients with MSL were followed for a mean period of 12 years (8-20 years). All patients had cervical lipomas ranging from subtle lesions to disfiguring masses; six patients had peripheral neuropathy and five had proximal myopathy. Myoclonus, cerebellar ataxia and additional lipomas were variably present. All patients showed clinical progression. Muscle histopathology was consistent with mitochondrial disease. Five patients were positive for mtDNA point mutation m.8344A>G, three of whom underwent lipoma resection--all samples were positive for uncoupling protein-1 mRNA (unique to brown fat). Lipoma from one case stained positive for adipocyte fatty-acid protein-2 (unique to brown fat and immature adipocytes). This long-term study hallmarks the phenotypic heterogeneity of MSL's associated clinical features. The clinical, genetic and molecular findings substantiate the hypothesis that lipomas in MSL are due to a mitochondrial disorder of brown fat.

Original publication

DOI

10.1016/j.mito.2013.03.003

Type

Journal article

Journal

Mitochondrion

Publication Date

07/2013

Volume

13

Pages

269 - 276

Addresses

Centre for Clinical Neurosciences and Neurological Research, Level 5 Daly Wing, St Vincent's Hospital, 35 Victoria Parade, Fitzroy, Victoria 3065, Australia. chris.plummer@svhm.org.au

Keywords

Humans, Lipomatosis, Multiple Symmetrical, Mitochondrial Diseases, Adult, Middle Aged, Female, Male, Adipose Tissue, Brown