11月龄女婴患尼曼-匹克病1例并文献复习  

An 11 month old female infant with Niemann-Pick disease:a case report and literature review

作　　者：刘杰 闫锐 张静 LIU Jie;YAN Rui;ZHANG Jing(Medical Imaging Center,Northwest Women's and Children's Hospital,Xi'an 710061,China)

机构地区：[1]西北妇女儿童医院医学影像中心,陕西西安710061

出　　处：《临床医学研究与实践》2022年第20期36-38,共3页Clinical Research and Practice

摘　　要：尼曼-匹克病(NPD)是一种常染色体隐性遗传疾病,是先天性鞘磷脂及胆固醇代谢障碍引起的溶酶体贮积病,以肝脾肿大及严重的神经系统疾病为主要临床表现。NPD发病率低,国内婴幼儿病例报道较少,临床表现多样,一般症状不典型,所以诊断困难,易造成漏诊、误诊,需依靠骨髓细胞学及基因检测确诊。早期胸部X线检查可发现两肺广泛粟粒状或网状影,胸部高分辨率计算机断层扫描(CT)表现为双肺弥漫网结影、磨玻璃影及“铺路石”征,影像学表现具有一定特征性,可早期提示为NPD,为临床提供有效的影像证据,进一步为患者做出针对性的实验室检查及基因测序。本文对我院11月龄女婴患NPD的诊疗情况进行报道,并对相关文献进行了梳理、归纳。Niemann-Pick disease(NPD)is an autosomal recessive genetic disease.It is a lysosomal storage disease caused by congenital sphingomyelin and cholesterol metabolism disorders.Its main clinical manifestations are hepatosplenomegaly and serious nervous system diseases.The incidence rate of NPD is low.There are few reports of infant cases in China.The clinical manifestations are diverse,and the general symptoms are not typical.Therefore,the diagnosis is difficult,and it is easy to cause missed diagnosis and misdiagnosis.The diagnosis needs to be confirmed by bone marrow cytology and gene detection.Early chest X-ray examination can find extensive miliary or reticular shadows in both lungs.High-resolution computed tomography(CT)shows diffuse reticular shadows,ground glass shadows and"paving stone"signs in both lungs.The imaging findings have certain characteristics,which can early prompt NPD,provide effective imaging evidence for clinic,and further make targeted laboratory examination and gene sequencing for patients.This paper reports the diagnosis and treatment of NPD in 11 month old female infant in our hospital,and combs and summarizes the relevant literature.

关 键 词：尼曼-匹克病 计算机断层扫描 基因测序 婴儿 遗传代谢障碍 

分 类 号：R440[医药卫生—诊断学]