Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Otolaryngological manifestations of 'Muckle-Wells syndrome'. 2029 11

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.
B-ENT 2013
PMID:Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. 2390 24