Article Text
Summary
Madelung’s disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung’s disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A>G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T>C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype.
- Movement disorders (other than Parkinsons)
- Neuro genetics
- Neuromuscular disease
- Visual pathway
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Footnotes
Contributors RL-B was responsible for writing and editing the manuscript, video and care of the patient. AR-S was responsible for taking video, review the manuscript and care of the patient. MHT-M was responsible for editing of the manuscript and care of the patient. AB was responsible for the molecular diagnosis, editing of the figure and review of the manuscript.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.