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B-ENT. 2013;9(2):161-3.

Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss.

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Department of ENT Surgery, Singleton Hospital, Swansea, UK.


Muckle-Wells syndrome (MWS) is a rare autosomal dominant condition with variable expression. It is a subset of auto-inflammatory diseases characterised by recurrent inflammatory crises and is associated with chronic recurrent urticaria, sensorineural deafness, periodic arthritis and secondary amyloidosis. The diagnosis of MWS is a clinical one with sufferers classically presenting in childhood with a moderate fever and non-pruiginous urticaria. We describe a case of a six-year-old girl who was successfully diagnosed and treated with Anakinra. Muckle and Wells originally described this syndrome in 1962; however, only recently was it discovered to be genetically linked to chromosome 1q44 and subsequently to missense mutations in the CIAS1/NALP3/PYPAF1 gene. Since then, treatment has evolved and it remains one of few treatable causes of congenital profound sensorineural hearing loss.

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