No abstract available.
Chronic Disease ; Cryopyrin-Associated Periodic Syndromes/*complications/diagnosis ; Gonioscopy ; Humans ; *Intraocular Pressure ; Male ; Microscopy, Acoustic ; Middle Aged ; Ocular Hypertension/diagnosis/*etiology/physiopathology ; Rare Diseases

OBJECTIVENeonatal-onset multisystem inflammatory disease (NOMID) is not widely recognized in China. This study aimed to investigate the diagnosis and treatment of NOMID.

METHODTo analyze the clinical characteristics and laboratory results including skin biopsy, gene analysis and serum interleukin 1β of a boy admitted to Peking University First Hospital in November of 2013. Reports on NOMID were searched and the clinical and laboratory characteristics of reported cases were summarized.

RESULTThe patient was a 1-year-old boy. He had urticaria since 2 days after birth, and presented with episodes of fever, aseptic meningitis, symptoms of joints, short statue, hearing loss, abnormal fundus findings, and leucocytosis, high level of c-reactive protein (CRP) and abnormal findings of head MRI including ventriculomegaly and white matter dysplasia. Urticaria was confirmed by skin biopsy. Gene analysis showed T1702T/A in exon 4 of NLRP3 gene, which causes Phe568lle. Serum interleukin 1β increased dramatically. The boy was diagnosed as NOMID. He did not respond to antibiotic therapy and anti-allergy therapy. Corticosteroid therapy induced normalization of body temperature, and alleviation of rash, but not improvement in cerebrospinal fluid cell numbers. After searching reports of NOMID at PubMed, and Chinese literature published before November 2013, we summarized cases from 8 reports and reviewed 148 cases. The results showed that fever, urticaria, meningitis and arthropathy are the most common manifestations of NOMID, only 57% (69/122) of patients had mutation of NLRP3.

CONCLUSIONThis is a rare report of NOMID in children in China. Fever, urticaria, aseptic meningitis and persistently high level of CRP are characteristics of NOMID. Gene analysis and serum interleukin-1β detection can aid in diagnosis.

C-Reactive Protein ; analysis ; Carrier Proteins ; genetics ; China ; Cryopyrin-Associated Periodic Syndromes ; complications ; diagnosis ; therapy ; Fever ; etiology ; Humans ; Infant ; Interleukin-1beta ; blood ; Joint Diseases ; etiology ; Male ; Meningitis, Aseptic ; etiology ; Mutation ; NLR Family, Pyrin Domain-Containing 3 Protein ; Urticaria ; etiology