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。
Abstract
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 2 cases 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 15 q11.2 belt 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
Key words
newborn /
infant /
Prade-Willi syndrome /
misdiagnosis
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参考文献
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基金
广东省科学技术厅资助项目( 201480772 )
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