Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF?

We report a 51-year-old alcoholic man with a 10-year history of cervical lipomas and progressive symmetrical sensory neuropathy, initially diagnosed with Madelung's disease, an idiopathic syndrome often attributed to chronic alcoholism. The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF (myoclonic epilepsy with ragged-red fibers). This case demonstrates how the varied terminology for this syndrome has resulted in a lack of consistent recognition and assessment for mitochondrial cytopathy.