CASE REPORT

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)

Authors

Ryuji Koike^1,3, Tetsuo Kubota², Yukichi Hara², Sayaka Ito², Kyoko Suzuki³, Kayoko Yanagisawa³, Ken Uchibori³ and Nobuyuki Miyasaka³

1. Department of Pharmacovigilance, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan
2. Graduate School of Health Sciences, Tokyo Medical and Dental University, Tokyo, Japan
3. Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan

Received:

26 March 2007

Accepted:

04 June 2007

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Abstract

Here, we report a case of Muckle-Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.

Key words

Autoinflammatory syndromes - Cryopyrin-associated periodic syndromes - Muckle-Wells syndrome - NALP3 - Sensorineural deafness