摘要
回顾性分析1例雷特综合征患儿的临床表型、基因特点及诊治要点,并进行文献复习。本例患儿,女,3.5岁,以“发育倒退”为首发表现,早期生长发育无异常,自11月龄后出现语言、社交、运动等技能的倒退及丧失、刻板动作等,完善基因检测显示存在MECP2基因突变,非来源于父母,为新发突变。MECP2基因突变是导致雷特综合征的原因,多数患儿早期发育正常,后期出现进行性的生活技能、社交技能等倒退及丧失,基因检测有助于早期明确诊断。
The clinical phenotype,gene characteristics,diagnosis and treatment of a child with Rett syndrome were analyzed retrospectively,and the literature was reviewed.This female child,3.5 years old,with“developmental regression”as the first manifestation,no abnormal growth and development in the early stage,regression and loss of language,social and motor skills and stereotyped movements appeared after 11 months of age,and genetic testing showed the presence of MECP2 gene mutation,which was not originated from the parents and was new.Mutations in the MECP2 gene are the cause of Rett syndrome.Most children with the syndrome develop normally in the early stages,but progressive life skills and social skills are regressed and lost in the later stage,and genetic testing can help to make a clear diagnosis at an early stage.
作者
于冰洁
毛国顺
鲁文青
YU Bingjie;MAO Guoshun;LU Wenqing(Department of Pediatrics,Fuyang People’s Hospital,Anhui Province,Fuyang 236000,China)
出处
《妇儿健康导刊》
2023年第7期60-62,共3页
JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE
关键词
雷特综合征
发育倒退
神经发育障碍
Rett syndrome
Developmental regression
Neurodevelopmental disorder
