目的 加强对Prader-Willi综合征(PWS)患儿围生期临床特征的认识,促进早期诊断、早期干预。方法 收集2016年1月-2018年7月西安市儿童医院新生儿科确诊为PWS的8例新生儿的临床资料进行分析。结果 8例PWS患儿均为足月产,4例为小于胎龄儿(SGA),6例剖宫产。Apgar评分1 min评分6例6~9分,无一例合并严重的生后窒息。新生儿期8例均有中枢性肌张力低下、喂养困难、皮肤色素减退和哭声低弱。7例合并有特殊面容,6例有性腺发育不良(5例为男性患儿有小阴茎,其中2例合并隐睾。1例为女性患儿大阴唇发育不良),5例患儿合并有小手小足、手指细长、拇指内收、尺侧缘平直。2例合并甲功异常(TSH升高,T4降低1例,TSH正常,T4降低1例)。结论 尽管剖宫产,SGA,低Apgar评分,生后体重不增对PWS患儿的诊断不具特异性,但它们在联合中枢性肌张力低下,持续喂养困难,外生殖器发育不良,皮肤色素减退时提示PWS,应尽早进行基因检测,并定期进行甲状腺功能的检测。
Abstract
Objective To study the perinatal clinical features of Prader-Willi syndrome (PWS),in order to promote the early diagnosis and intervention of PWS. Method Clinical data of 8 neonates diagnosed with PWS in the Neonatal Department of Xi′an Children′s Hospital from January 2016 to July 2018 were collected for analysis. Results Eight neonates were full term,of whom 4 cases were smaller than gestational age (SGA),and six cases were delivered by cesarean section. Six patients got 6-9 in terms of 1 min Apgar score and no cases were found with severe postnatal asphyxia. The main clinical phenotypes in the neonatal period included central hypotonia,feeding difficulties,skin hypopigmentation and weak crying in 8 cases. There were 7 cases with special facial features and 6 cases with external genital dysplasia (5 cases were male with small penis,and 2 of them with cryptorchidism,one female case with labia majora dysplasia). And 5 cases comorbided with small hands and feet,slender fingers,adduction of thumb,flat ulnar margin,2 patients had abnormal thyroid function (one patient with increased TSH level and decreased T4 level,while another one patient with normal level of TSH and decreased T4 level). Conclusions Although cesarean section,SGA,low Apgar score,and no postpartum weight gain are not specific to PWS,it is suggested that genetic testing should be conducted as early as possible and thyroid function should be tested regularly when combined with central hypotonia,persistent feeding difficulties,dysplasia of external genitalia,and decreased skin pigmentation.
关键词
Prader-Willi综合征 /
新生儿 /
肌张力低下
Key words
Prader-Willi syndrome /
neonate /
hypotonia
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