新生儿Prader-Willi综合征临床诊疗思路

Diagnostic profile of neonates with Prader-Willi syndrome

目的总结新生儿Prader-Willi综合征(Prader–Willi syndrome,PWS)的临床特征,并构建其临床诊断思路,为临床早期筛选并进一步基因诊断提供帮助。方法收集2014年1月至2018年5月在重庆医科大学附属儿童医院新生儿科住院并诊断为PWS的患儿临床资料,分析患儿相关临床表现,并复习国内有关新生儿期PWS临床表现的报道,总结其最常见的临床表现,构建临床诊疗思路。结果本院15例患儿中剖宫产10例(66.7%)。11例(73.3%)为小于胎龄儿(small for gestational age,SGA)。临床表现上15例(100%)患儿均有肌张力低下、吸吮能力差、喂养困难、反应差、少动、哭声弱。10例有外生殖器小或发育不全:9例男性患儿均有性腺发育不良,其中7例有隐睾;6例女性患儿中有1例表现为大阴唇小。皮肤色素减低6例(40.0%)。特殊面容1例(6.7%)。纳入的17篇文献中85例新生儿PWS临床表现依次为:肌张力低下(100%,85/85)、哭声弱(95.3%,81/85)、喂养困难(90.6%,77/85)、皮肤色素减低(78.5%,51/65)、外生殖器发育不良(72.9%,62/85)、剖宫产(71.4%,50/70)、特殊面容(67.1%,57/85)、胎动减少(37.0%,20/54)、SGA(33.3%,24/72)、低出生体重(21.2%,11/52)、羊水过多(20.3%,14/69)、早产(18.1%,15/83)。结论新生儿时期不明原因的肌张力低下需高度警惕PWS可能,识别临床表现,尽早行基因检测确诊,以便早期干预,改善预后。

Objective To summarize the clinical features of neonates with Prader-Willi syndrome(PWS)and to construct its clinical diagnosis flowchart,so as to provide help for early clinical screening and further gene diagnosis.Methods The clinical data of 15 patients with PWS from January 2014 to May 2018 in the Department of Neonatology,Children's Hospital of Chongqing Medical University were collected and the relevant clinical manifestations were analyzed.The domestic reports on the clinical manifestations of neonates with PWS were reviewed,and the most common clinical manifestations were summarized.Then the flowchart of clinical diagnosis was constructed.Results In this analyzed 15 patients,caesarean section in 10 cases(66.7%),and the small for gestational age(SGA)in 11 cases(73.3%).The clinical characteristics in neonatal period included hypotonia,feeding difficulty,poor response,less movement and weak crying in 15 cases(100%).10 cases had small external genitalia or hypoplasia(66.7%):9 male neonates had gonadal dysplasia,7 of them had cryptorchidism;and 1 female neonate showed small labia majoris.Skin pigmentation decreased in 6 cases(40.0%).Characteristic facial feature was discribed in 1 case(6.7%).85 neonates from the 17 literatures were included.The phenotypes were discribed as the follows:hypotonia(100%,85/85),weak crying(95.3%,81/85),feeding difficulty(90.6%,77/85),skin hypopigmentation(78.5%,51/65),hypogonadism(72.9%,62/85),cesarean(71.4%,50/70),characteristic facial features(67.1%,57/85),decreased fetal movement(37.0%,20/54),SGA(33.3%,24/72),low birth weight(21.2%,11/52),polyhydramnios(20.3%,14/69),and premature birth(18.1%,15/83).Conclusion Neonates with hypotonia which was unexplained should be concerned the possibility of PWS and the clinical manifestations.Gene diagnosis should be performed as early as possible,so as to intervene early and improve the prognosis of these patients.