作　　者： ; ; ; ; ; ;

机构地区： 南方医科大学

出　　处： 《中华实用儿科临床杂志》 2020年第8期628-631,共4页

摘　　要： 目的探讨Prader-Willi综合征(PWS)患儿的临床特征。方法收集2016年7月至2018年12月在南方医科大学附属深圳市妇幼保健院诊治的PWS患儿18例,回顾性分析所有患儿的临床资料。结果18例PWS患儿中男12例,女6例。确诊年龄25 d^9.5岁[(3.09±3.02)岁]。其中婴幼儿期(≤3岁)11例,婴幼儿期后(>3岁)7例。婴幼儿期PWS主要表现为性腺发育不良11例(100.0%)、精神运动发育迟缓11例(100.0%)、肌张力低下10例(90.1%)、喂养困难6例(54.5%)及哭声低下6例(54.5%);7例婴幼儿期后PWS主要表现为精神运动发育迟缓7例(100.0%)、过度摄食5例(71.4%)、肥胖5例(71.4%)、行为问题5例(71.4%)及视力问题4例(57.1%)。所有患儿在整个发育阶段的临床特征包括母孕期胎动减少、出生时性腺发育不全、新生儿期肌张力低下、哭声低下及喂养困难、精神运动发育迟缓、过度摄食、肥胖及行为问题等。结论PWS不同年龄阶段临床表现不同。婴幼儿期主要表现为肌张力减低、哭声低下、喂养困难,性腺发育不良;婴幼儿期后主要表现为过度摄食、肥胖、行为及视力问题。而精神运动发育迟缓存在于PWS患儿整个发育阶段。早期诊治对PWS预后改善有重要意义。 Objective To study the clinical features of children with Prader-Willi syndrome(PWS).Methods Eighteen cases of PWS were collected from July 2016 to November 2018 in Shenzhen Maternal and Child Healthcare Hospital,Southern Medical University.The clinical data of children with PWS were analyzed retrospectively.Results There were 12 males and 6 females in 18 cases with PWS.The diagnosis age ranged from 25 days to 9.5 years old[(3.09±3.02)years old].Among them,11 cases were in infancy(≤3 years old)and 7 cases after infancy(>3 years old).The main clinical features of infants with PWS were 11 cases of gonadal dysplasia(100.0%),11 cases of psychomotor retardation(100.0%),10 cases of hypotonia(90.1%),6 cases of feeding difficulty and weak cry(54.5%).After infancy the main clinical features included 7 cases of psychomotor retardation(100.0%),5 cases of hyperphagia(71.4%),5 cases of obesity(71.4%),5 cases of abnormal behavior problems(71.4%)and 4 cases of visual problems(57.1%).The clinical features of all patients throughout the developmental stage were as follows:decreased fetal movement,hypoplasia,neonatal hypotonia,weak cry,feeding difficulty,psychomotor delay,hyperphagia,obesity,abnormal behavior problems,and so on.Conclusions The clinical features of PWS vary with age.The main clinical features in the infancy are hypotonia,weak cry,difficulty feeding and gonadal dysplasia.After infancy,there are hyperphagia,obesity,behavior and visual problems.And psychomotor retardation is present in the whole developmental stage of children with PWS.Early diagnosis and treatment are important for improving the prognosis of PWS.

关 键 词： 综合征 临床特征 基因 随访

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