MITOCHONDRIAL-DNA MUTATIONS IN MULTIPLE SYMMETRICAL LIPOMATOSIS

Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large subcutaneous fat masses around the neck, shoul ders and other parts of the trunk. Peripheral neuropathy is a common f inding in these predominantly male patients. Employing electrophysiolo gical measures, we found additional signs of central nervous system in volvement in a majority of patients. Etiologically, there is an associ ation with mitochondrial dysfunction. In muscle biopsy, we found ragge d red fibers in 8 of 12 patients. Molecular genetic analysis revealed multiple deletions of mitochondrial DNA in one patient and the MERRF m utation at nucleotide 8344 in another. In this review, we summarize ou r clinical, electrophysiological morphological, biochemical and molecu lar genetic findings in 17 MSL patients, and give a survey of the lite rature.