Prader-Willi综合征46例临床分析

发布时间：2018-07-26 19:18

【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。
[Abstract]:Objective to investigate the clinical features and diagnostic methods of (PWS) children with Prader-Willi syndrome from neonatal to puberty. Methods from January 2010 to January 2016, 46 cases of children with PWS treated in affiliated Children's Hospital of Chongqing Medical University were retrospectively analyzed. Results there were 46 cases of PWS, 28 males and 18 females, the ratio of male to female was 3: 2. The age of first visit was 0 ~ 9 years old, the age of diagnosis was 14 days to 14 years old, the course of disease was up to 9 years. The main clinical manifestations were dystonia in 28 cases (60%), dystonia in 20 cases (44%), low crying in 18 cases (40%), mental retardation in 42 cases (92%), obesity in 25 cases (55%) and short stature in 26 cases (57%). The clinical manifestations of different age groups were as follows: the main manifestations of neonates (0 ~ 28 days) were low muscle tension, weak crying and poor sucking power, while infants (28 days to 1 years old) showed poor motor development, low muscle tension, weak crying and poor sucking power. Young children (1 to 3 years old) mainly showed poor motor intelligence, low muscular tension, low skin pigmentation and more than 3 years old children with mental retardation, hyperappetite and obesity, and short stature. External genitalia dysplasia. 44 cases were paternal 15q11-13 deletion (96%) and 2 cases were maternal single parent diploid (4%). Conclusion the clinical manifestations of children with PWS vary from age to age, and early detection of genes is helpful for early diagnosis.
【作者单位】：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;
【分类号】：R722.1

【相似文献】