Rett综合征1例病例报道并文献复习  

A case report of Rett syndrome and literature review

作　　者：常倩 丁霞 周秉博 张巧丽 王凡[1] 尹立琴[1] CHANG Qian;DING Xia;ZHOU Bingbo;ZHANG Qiaoli;WANG Fan;YIN Liqin(Department of Neonatology,Lanzhou University Second Hospital,Gansu Province,Lanzhou730030,China;Department of Pediatric Respiratory,Lanzhou University Second Hospital,Gansu Province,Lanzhou730030,China;Medical Genetics Center,Gansu Provincial Matemity and Child Health Hospital,Gansu Province,Lanzhou730030,China)

机构地区：[1]兰州大学第二医院新生儿科,甘肃兰州730030 [2]兰州大学第二医院小儿呼吸科,甘肃兰州730030 [3]甘肃省妇幼保健院医学遗传中心,甘肃兰州730030

出　　处：《中国医药导报》2023年第9期177-180,共4页China Medical Herald

基　　金：甘肃省卫生行业科研计划项目(GSWSHY2018-63)。

摘　　要：报道1例3月龄婴儿因小头畸形、生长发育迟缓行基因高通量测序,结果证实MECP2基因存在移码突变,结合临床表型确诊为Rett综合征的罕见男婴。患儿早期发育正常及发病年龄应大于6月龄不再视为确诊经典Rett综合征的必要条件。该病例报道将为低月龄Rett综合征的诊断提供一定参考,同时提高临床工作者对此病的认识,以期减少误诊及漏诊率。A 3-month-old infant with microcephaly was reported,high-throughput sequencing of growth retardation genes,the results confirmed frameshift mutation in MECP2 gene,and a rare male child diagnosed with Rett syndrome combined with the clinical phenotype.Normal early development and age greater than six months of age are no longer necessary for diagnosis of classic Rett syndrome.This case report will provide some reference for the diagnosis of Rett syndrome,and improve the knowledge of clinical workers,in order to reduce the rate of misdiagnosis and missed diagnosis.

关 键 词：MECP2突变 移码突变 婴幼儿 RETT综合征 

分 类 号：R729[医药卫生—儿科]