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01-02-2008 | Case Report

A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

Authors: Zubeyde Gunduz, Ismail Dursun, Juan I. Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M. Poyrazoglu, Metin Kaya Gurgoze, Ali Yıkılmaz

Published in: Rheumatology International | Issue 4/2008

Excerpt

Chronic infantile neurological, cutaneous and articular (CINCA; MIM#607115) syndrome (also known as neonatal onset multisystem inflammatory disease-NOMID) is a rare and continuous inflammatory disorder, which has an onset at neonatal age and is clinically characterized by a generalized urticaria-like skin rash, a severe joint involvement, with arthritis and in most of the cases a distinct deforming arthropathy, and central nervous system symptoms, such as chronic aseptic meningitis, cerebral atrophy, papilledema and sensorineural hearing loss [1]. Other findings identified in patients with CINCA-NOMID syndrome including generalized lymphadenopathies, hepatosplenomegaly, recurrent fever, hydrocephalus with persistent open fontanelles, mental retardation, and secondary AA amyloidosis [1‐3]. …

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Title: A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation
Authors: Zubeyde Gunduz
Ismail Dursun
Juan I. Aróstegui
Jordi Yagüe
Ruhan Dusunsel
Hakan M. Poyrazoglu
Metin Kaya Gurgoze
Ali Yıkılmaz
Publication date: 01-02-2008
Publisher: Springer-Verlag
Published in: Rheumatology International / Issue 4/2008
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-007-0432-4

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