Prader-Willi综合征46例临床分析  

Clinical analysis of 46 cases of Prader-Willi syndrome

作　　者：李洁玲[1] 曹洁[1] 

机构地区：[1]重庆医科大学附属儿童医院内科全科儿童发育疾病研究教育部重点实验室儿童发育重大疾病国家国际科技合作基地儿科学重庆市重点实验室,重庆400014

出　　处：《中国实用儿科杂志》2017年第3期215-219,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的探讨新生儿期至青春期Prader-Willi综合征(PWS)患儿的临床特点和诊断方法。方法对2010年1月至2016年1月重庆医科大学附属儿童医院收治的46例PWS患儿临床特点及基因检测结果进行回顾性分析。结果 46例PWS患儿,男28例,女18例,男女比例3∶2。初次就诊年龄0~9岁,确诊年龄14 d至14岁,病程最长达9年。主要临床表现为肌张力低下28例(60%)、喂养困难20例(44%)、哭声低下18例(40%)、智能障碍42例(92%)、肥胖25例(55%)及身材矮小26例(57%)等。各年龄段临床表现不同:新生儿(0~28 d)主要表现为肌张力低下、哭声弱、吸吮力差;婴儿(>28 d至1岁)主要表现为运动发育落后、肌张力低下、哭声弱、吸吮力差、特殊面容及皮肤色素减退等;幼儿(>1~3岁)主要表现为运动智力发育落后、肌张力低下、皮肤色素减退等;3岁以上患儿出现智力发育落后、食欲亢进及肥胖、身材矮小、外生殖器发育不全。44例为父源性15q11-13区域缺失(96%),2例为母源单亲二倍体(4%)。结论各年龄段PWS患儿临床表现不同,尽早行基因检测有助于早期诊断。Objective To study clinical features and diagnostic means of children with Prader-Willi syndrome （PWS） from neonatal period to adolescence. Methods Conduct retrospective analysis of clinical characteristics and genetic testing results of children with PWS in Children＇ s Hospital of Chongqing Medical University from January 2010 to Janu- ary 2016. Results Totally 46 children with PWS were chosen, 28 male, 18 female, the ratio of male to female being 3 ： 2; the age of children receiving medication for the first time ranges from birth to 9 years old; the age of diagnosed chil- dren ranges from 14 days to 14 years, and the longest course of PWS had lasted for 9 years. The main clinical manifesta- tions included hypotonia （28 cases, 60% ）, feeding difficulties （20 cases, 44% ）, low crying （ 18 cases, 40% ）, disturbance of intelligence （42 cases, 92%）, obesity（25 cases, 55%） and microsomia （26 cases, 57%）, etc. Different ages showed dif- ferent performances：newborns（0-28 days） mainly had hypotonia, weak crying, poor suck;infants （29 days-1 year） main- ly showed backward motor development, hypotonia, weak crying, poor suck, special facial features and skin hypopigmen- tation etc. ;babies （1-3 years） mainly showed backward motor and intelligent development, hypotonia and skin hypopig- mentation etc. Children （ 〉 3 years） mainly showed backward intelligent development, bulimia, obesity, microsomia and agenosomia （incomplete sextual development）. Among the samples, 44 cases were 15ql 1-13 region deletion of paternal origin of the genetic material （96%）, whilst 2 cases were uniparental disomy of maternal origin of the genetic material （4%）. Conclusion As different children with PWS show different clinical manifestations ,earlier genetic testing is ben- eficial to the early diagnosis.

关 键 词：PRADER-WILLI综合征 临床特点 基因检测 单亲二倍体 

分 类 号：R72[医药卫生—儿科]