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Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF?
Author(s) -
Schoffer Kerrie,
Grant Ian
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20406
Subject(s) - myoclonic epilepsy , medicine , pathology , pathological , mitochondrial disease , epilepsy , pediatrics , mitochondrial dna , genetics , psychiatry , biology , gene
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. Muscle Nerve, 2005