论文部分内容阅读
;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 To analyze the data of two cases of misdiagnosis of Prader-Willi syndrome (PWS) in order to diagnose early and reduce misdiagnosis and missed diagnosis. Methods The clinical manifestations and diagnosis of 2 cases of PWS misdiagnosed from June 2009 to June 2016 were retrospectively analyzed, and their clinical characteristics and causes of misdiagnosis were summarized. Results Two cases of PWS had the features of decreased fetal motion, post-natal hypotonia, poor response, difficulty of feeding, less crying and less movement, special face and cryptorchidism. Methylation-specific multiplex ligation-dependent probe amplification MS-MLPA) assay showed that the chromosome 15q11.2 deletion in the middle of the band, diagnosed PWS. Conclusion The clinical manifestations of PWS are not typical, easily misdiagnosed, missed diagnosis and improve the understanding of the disease can reduce misdiagnosis, for patients with low muscle tone, feeding difficulties and special face, gene analysis should be timely to early diagnosis.