Prader-Willi综合征误诊2例临床资料分析  

Analysis on two misdiagnosis cases of neonatal Prader-Willi syndrome

作　　者：邱其周[1] 程贵辉[1] 陈虹余[1] 肖毅[1] 黄凌雁[1] 

机构地区：[1]广州医科大学附属深圳沙井医院新生儿科,广东深圳518104

出　　处：《中国儿童保健杂志》2017年第2期177-179,共3页Chinese Journal of Child Health Care

基　　金：广东省科学技术厅资助项目(201480772)

摘　　要：;目的对2例Prader-Willi综合征(PWS)误诊病例资料进行分析,以求早期诊断,减少误诊、漏诊。方法对2009年6月-2016年6月误诊的PWS 2例病例患儿的临床表现、诊断进行回顾性分析,总结其临床特点及误诊原因。结果 2例PWS患儿具有胎动减少,生后肌张力低下、反应差、喂养困难、少哭少动、特殊面容、隐睾等特征,行甲基化特异性多重连接依赖性探针扩增(MS-MLPA)法检测显示其染色体15q11.2带内中间部位缺失,确诊PWS。结论新生儿PWS的临床表现不典型,容易误诊、漏诊,提高对此病的认识可减少误诊,对于具有肌张力低下、喂养困难和特殊面容的患儿,应及时行基因分析,以期早期诊断。Objective Two misdiagnosis cases with neonatal Prader-Willi syndrome（PWS）were analyzed,in order to early diagnosis and reduce misdiagnosis or missed diagnosis. Methods The clinical manifestation and diagnosis of 2cases with PWS were analyzed retrospectively from June 2009 to June 2016.The clinical features and misdiagnosis reasons were summarized Results Two cases of PWS described in this study had some features such as decreased fetal movement,hypotonia,poor response,feeding difficulty,less crying and doing,special appearances and cryptorchidism,Testing their chromosome 15q11.2belt in the middle part missing with methylation specific multiplex ligation dependent probe amplification（MS-MLPA）method can diagnose PWS. Conclusion The clinical manifestations of neonatal PWS is not typical.It is easy to result in misdiagnosis or missed diagnosis.Improving cognition of the disease can reduce misdiagnosis.The children with poor muscle tone,feeding difficulties and special features,genetic analysis is needed in time for early diagnosis.

关 键 词：新生儿 婴儿 PRADER-WILLI综合征 误诊 

分 类 号：R179[医药卫生—妇幼卫生保健]