, Volume 28, Issue 4, pp 379-383
Date: 08 Aug 2007

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

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Introduction

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 [13].

In the past few years it has been demonstrated that more than 50% of patients with a clinical diagnosis of CINCA-NOMID syndrome harbored mutations in the CIAS1 gene. This gene maps at 1q44,