Otolaryngological manifestations of 'Muckle-Wells syndrome'

We present a follow-up of a cohort of three cases of Muckle-Wells syndrome (MWS). The aim of this report is to characterise the symptoms of this rare autosomal dominant condition with respect to the ENT practice. A retrospective analysis of the clinical features of MWS from our outpatient follow-up record of the three patients diagnosed with MWS. An extensive literature search was performed, using Medline through Pub Med (1950-2010), EMBASE (1980-2009) and Ovid (1958-2009). Retrospective case note study. In the present cohort, progressive sensorineural hearing loss was the main presentation and has been followed up over 10 years (median). The spectrum of head and neck presentation from the world literature was reviewed and includes hypothyroidism, amyloid goitre, cervical lymphadenopathy, and facial rash. This is the first documented report of the Otolaryngological features of the MWS in the English ENT literature. An awareness of this rare syndrome is essential in order to diagnose this uncommon syndrome and thus to plan for a long-term follow-up.