Title:
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss
Authors:
B. T. Stew , S. J. C. Fishpool , D. Owens and S. Quine
Institutions:
1Department of ENT Surgery, Singleton Hospital, Swansea, UK; Department of ENT Surgery, University Hospital of Wales, Cardiff, UK
Keywords:
Muckle, Wells; congenital hearing loss; sensorineural; anakinra
Pages:
161 - 163
Abstract:
Muckle-Wells syndrome: A treatable cause of congenital sensorineural hearing loss. 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 suc- cessfully 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 con- genital profound sensorineural hearing loss.
Issue:
Vol. 9, 2013, 2nd trimester


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