【摘要】：目的探討新生兒期至青春期Prader-Willi綜合征(PWS)患兒的臨床特點和診斷方法。方法對2010年1月至2016年1月重慶醫(yī)科大學附屬兒童醫(yī)院收治的46例PWS患兒臨床特點及基因檢測結(jié)果進行回顧性分析。結(jié)果 46例PWS患兒,男28例,女18例,男女比例3∶2。初次就診年齡0~9歲,確診年齡14 d至14歲,病程最長達9年。主要臨床表現(xiàn)為肌張力低下28例(60%)、喂養(yǎng)困難20例(44%)、哭聲低下18例(40%)、智能障礙42例(92%)、肥胖25例(55%)及身材矮小26例(57%)等。各年齡段臨床表現(xiàn)不同:新生兒(0~28 d)主要表現(xiàn)為肌張力低下、哭聲弱、吸吮力差;嬰兒(28 d至1歲)主要表現(xiàn)為運動發(fā)育落后、肌張力低下、哭聲弱、吸吮力差、特殊面容及皮膚色素減退等;幼兒(1~3歲)主要表現(xiàn)為運動智力發(fā)育落后、肌張力低下、皮膚色素減退等;3歲以上患兒出現(xiàn)智力發(fā)育落后、食欲亢進及肥胖、身材矮小、外生殖器發(fā)育不全。44例為父源性15q11-13區(qū)域缺失(96%),2例為母源單親二倍體(4%)。結(jié)論各年齡段PWS患兒臨床表現(xiàn)不同,盡早行基因檢測有助于早期診斷。
[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.
【作者單位】： 重慶醫(yī)科大學附屬兒童醫(yī)院內(nèi)科全科兒童發(fā)育疾病研究教育部重點實驗室兒童發(fā)育重大疾病國家國際科技合作基地兒科學重慶市重點實驗室;
【分類號】：R722.1

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