Prader-Willi综合征2例的临床及遗传学分析  

Clinical and genetic analysis of two cases of Prader-Willi syndrome

作　　者：李晓沛 周冉 孙萌[1] 王丹丹 程亚颖[1] Li Xiaopei;Zhou Ran;Sun Meng;Wang Dandan;Cheng Yaying(Department of Pediatrics,Hebei General Hospital,Shijiazhuang 050051,China)

机构地区：[1]河北省人民医院儿科,石家庄050051

出　　处：《中国综合临床》2023年第1期53-56,共4页Clinical Medicine of China

基　　金：河北省医学科学研究课题计划(20190296);河北省重点研发计划项目(21377783D)。

摘　　要：目的探讨Prader-Willi综合征(Prader-Willi Syndrome,PWS)的临床特征及遗传学特点。方法回顾性分析2例于河北省人民医院确诊为PWS患儿的临床资料及基因学特点,并对相关文献进行讨论复习。结果病例1,男,年龄6岁3个月,因身材矮小就诊,智力轻度低下,构音障碍,脊柱侧弯,隐睾,小阴茎,长颅、窄面、杏仁眼、小嘴,薄上唇、嘴角向下,皮肤白皙。婴儿期肌张力低下、喂养困难,后逐渐食欲亢进,1.5岁行双侧隐睾手术,但效果不佳。病例2,男,年龄4岁,主因肥胖就诊,食欲亢进,体质量增长过快,语言、认知功能落后,构音不清,脊柱侧弯。婴儿早期曾有喂养困难,2岁行双侧隐睾手术效果不佳。分别采用甲基化特异性聚合酶链反应及甲基化特异性多重链接探针扩增技术进行了基因检测:结果均检测到PWS关键区域(15q11-13)的父源片段丢失,确诊为PWS。结论PWS是一种较为罕见的遗传性疾病,临床表现复杂多样,各年龄段特点不同,对不明原因婴儿期肌张力低下、喂养困难;儿童期矮小、肥胖患儿,需警惕该病,可通过分子遗传学技术明确诊断。Objective To investigate the clinical and genetic characteristics of Prader-Willi syndrome(PWS).Methods The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed,and the relevant literature was reviewed.Results Case 1,male,aged 6 years and 3 months,was presented to the hospital because of short stature,mild mental retardation,dysarthria,scoliosis,cryptorchidism,micropenis,long skull,narrow face,almond eyes,small mouth,thin upper lip,downward corners of the mouth,fair skin.He had hypotonia and feeding difficulties in infancy,and gradually became hyperappetitive.Bilateral cryptorchidism surgery was performed at 1.5 years old,but the effect was not good.Case 2,male,aged 4 years,presented to the hospital mainly due to obesity,hyperappetite,excessive weight gain,backward language and cognitive function,dysarthria,and scoliosis.The infant had feeding difficulties in the early stage,and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region(15q11-13)of PWS,which confirmed Prader-Willi syndrome.Conclusion PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups.It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy.Children with short stature and obesity should be alert to the disease,which can be clearly diagnosed by molecular genetic techniques.

关 键 词：PRADER-WILLI综合征 矮小 肥胖 基因印记 甲基化特异性多重链接探针扩增 

分 类 号：R725[医药卫生—儿科]