title: Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss.
abstract: 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.
authors.affiliation: Department of ENT Surgery, Singleton Hospital, Swansea, UK. stewb@doctors.org.uk
authors.forename: B T
authors.initials: BT
authors.lastname: Stew
authors.forename: S J C
authors.initials: SJ
authors.lastname: Fishpool
authors.forename: D
authors.initials: D
authors.lastname: Owens
authors.forename: S
authors.initials: S
authors.lastname: Quine
mesh_terms: D018501:Antirheumatic Agents / Q000494:pharmacology / Q000627:therapeutic use; D001309:Auditory Threshold / Q000187:drug effects; D002648:Child; D056587:Cryopyrin-Associated Periodic Syndromes / Q000150:complications* / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000494:pharmacology / Q000627:therapeutic use
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein