Guan Na, Li Bo, Wu Ye
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Email:
Zhonghua Er Ke Za Zhi. 2014 Dec;52(12):932-6.
Neonatal-onset multisystem inflammatory disease (NOMID) is not widely recognized in China. This study aimed to investigate the diagnosis and treatment of NOMID.
To 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.
The 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.
This 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.
新生儿期起病的多系统炎症性疾病（NOMID）在中国尚未得到广泛认识。本研究旨在探讨NOMID的诊断与治疗。
分析2013年11月入住北京大学第一医院的一名男童的临床特征及实验室检查结果，包括皮肤活检、基因分析及血清白细胞介素1β水平。检索NOMID相关报道并总结已报道病例的临床及实验室特征。
该患者为1岁男童。自出生后2天起出现荨麻疹，伴有发热、无菌性脑膜炎、关节症状、身材矮小、听力丧失、眼底异常、白细胞增多、C反应蛋白（CRP）水平升高以及头颅MRI异常，表现为脑室扩大和白质发育异常。皮肤活检确诊为荨麻疹。基因分析显示NLRP3基因第4外显子存在T1702T/A突变，导致苯丙氨酸568异亮氨酸。血清白细胞介素1β显著升高。该男童被诊断为NOMID。抗生素治疗及抗过敏治疗无效。糖皮质激素治疗使体温恢复正常，皮疹减轻，但脑脊液细胞数量未改善。在PubMed及2013年11月之前发表的中文文献中检索NOMID报道后，我们总结了8篇报道中的病例并复习了148例病例。结果显示，发热、荨麻疹、脑膜炎及关节病是NOMID最常见的表现，仅57%（69/122）的患者存在NLRP3突变。
这是中国儿童NOMID的罕见报道。发热、荨麻疹、无菌性脑膜炎及持续高水平的CRP是NOMID的特征。基因分析及血清白细胞介素-1β检测有助于诊断。
