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

Abstract
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.
AuthorsKerrie Schoffer, Ian Grant
JournalMuscle & nerve (Muscle Nerve) Vol. 33 Issue 1 Pg. 142-6 (Jan 2006) ISSN: 0148-639X [Print] United States
PMID16007676 (Publication Type: Case Reports, Journal Article)
Chemical References
  • RNA, Transfer, Lys
  • RNA, mitochondrial
  • RNA
Topics
  • Alcoholic Neuropathy (diagnosis)
  • Alcoholism (diagnosis)
  • Humans
  • Lipoma (diagnosis)
  • Lipomatosis, Multiple Symmetrical (diagnosis, genetics)
  • MERRF Syndrome (diagnosis, genetics)
  • Male
  • Middle Aged
  • Muscle, Skeletal (ultrastructure)
  • Mutation
  • RNA (genetics)
  • RNA, Transfer, Lys (genetics)

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