高苯丙氨酸血症并德朗热综合征1例  

Case report of hyperphenylalaninemia combined with Cornelia de Lange syndrome

作　　者：刘明芳 董丽萍[2] Liu Mingfang;Dong Liping(Newborn Disease Screening Center,Liaocheng Maternal and Child Health Hospital,Liaocheng 252000,Shandong Province,China;Newborn Disease Screening Center,Zibo Maternal and Child Health Hospital,Zibo 255000,Shandong Province,China)

机构地区：[1]聊城市妇幼保健院新生儿疾病筛查中心,山东聊城252000 [2]淄博市妇幼保健院新生儿疾病筛查中心,山东淄博255000

出　　处：《中华实用儿科临床杂志》2021年第2期145-147,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对聊城市妇幼保健院新生儿疾病筛查中心2018年2月1例经新生儿疾病筛查确诊高苯丙氨酸血症(HPA)并德朗热综合征(CdLS)的患儿资料进行回顾性分析。患儿,女,22个月,临床表现为特殊面容,全身毛发多,尤其头额面部,头发黑密,发际线低,眉毛浓密,一字眉,耳位偏低,鼻小,人中浅,左手通贯掌,心音有力,节律齐,心前区未闻及杂音,双肺呼吸音清晰,全身皮肤有紫色大理石花纹,腹软,四肢肌张力高;苯丙氨酸羟化酶(PAH)基因变异c.1256A>G(p.Q419R)来源于母亲,c.4421G>A(splicing)来源于父亲;SMC1A基因是X连锁显性遗传,突变位点c.19791980insTGAA为自发变异。本研究同时回顾了HPA诊治及国内23例CdLS的临床及基因变异特点,以提高医师对该类疾病的认识。The data of 1 case diagnosed with hyperphenylalaninemia(HPA)combined with Cornelia de Lange syndrome(CdLS)by neonatal screening in Newborn Disease Screening Center,Liaocheng Maternal and Child Health Hospital in February 2018 were analyzed retrospectively.The patient was a girl,22 months old,with clinical features of specific facial appearance,excessive body hair(especially on the forehead and face),dark and thick hair on the head,a low hairline,a heavy and straight brow,lower ear positions,a small nose,a shallow philtrum,a simian line,strong and rhythmic heart sounds,no murmur in the precordial area,clear respiratory sounds of both lungs,purple marbling patterns on the whole body skin,a soft abdomen,and high muscle tension of limbs.The gene mutation c.1256A>G(p.Q419R)of the polyclonal antibody(PAH)originated from the patient′s mother,while the mutation c.4421G>A(splicing)derived from the patient′s father.SMC1A gene was X-linked dominant inheritance,and c.1979_1980insTGAA was a spontaneous mutation.In this paper,the diagnosis and treatment of HPA and clinical and genetic variation characteristics of 23 CdLS cases in China were reviewed,so as to improve the knowledge of doctors about HPA combined with CdLS.

关 键 词：高苯丙氨酸血症 德朗热综合征 癫痫 基因 

分 类 号：R725.8[医药卫生—儿科]