Erschienen in:
01.02.2008 | Case Report
A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation
verfasst von:
Zubeyde Gunduz, Ismail Dursun, Juan I. Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M. Poyrazoglu, Metin Kaya Gurgoze, Ali Yıkılmaz
Erschienen in:
Rheumatology International
|
Ausgabe 4/2008
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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]. …