MECP2基因新发突变致男童Rett综合征1例  

Newly identified MECP2 gene mutation causing Rett syndrome in a male child:A case report

作　　者：袁延涵 陈嘉怡 张金萍 YUAN Yanhan;CHEN Jiayi;ZHANG Jinping(Department of Pediatrics,Shanghai Sixth People’s Hospital,Shanghai 201306,China)

机构地区：[1]上海市第六人民医院儿科,上海201306

出　　处：《临床与病理杂志》2023年第12期2201-2205,共5页Journal of Clinical and Pathological Research

摘　　要：Rett综合征是一种主要由X性染色体上的基因突变所致的神经发育障碍性疾病,患儿多为女童,男童罕见。本文报告上海市第六人民医院儿科(以下简称“我科”)收治的新发基因突变致Rett综合征1例。患儿,男,8个月,因“喂养困难,发育迟缓8个月”就诊。患儿在其母孕35周时因“胎儿宫内窘迫”而剖宫产娩出后至我科治疗,住院期间患儿有喂奶呛咳所致呼吸暂停1次,调整喂养频次及奶量患儿体重增长,但口服奶量仍不理想。以“喂养困难”转至专科医院就诊,期间患儿出现新生儿肠炎,多次出现喂养过程中经皮氧下降,予禁食、补液、抗感染及口腔训练后,患儿奶量增加,家属签字出院。患儿就诊时抬头困难,不能独坐、爬行;可以手持玩具,但不能双手传递玩具;对声源有反应;可无意识说爸爸、妈妈,重复大人所说的简单音节;与大人有眼神交流;患儿有不自主左右摇头。体格检查示:四肢肌张力稍高,肌力正常,生理反射存在,病理反射未引出。出生后有促甲状腺激素升高,心脏超声检查示卵圆孔未闭。全基因组测序:甲基化CpG结合蛋白2基因c.317G>A(p.Arg106Gln)错义变异。患儿9月龄,因“重症肺炎”至专科医院就诊,经治疗患儿仍不能脱离气管插管和机械辅助通气,家长签字自动出院。Rett syndrome is a neurodevelopmental disorder mainly caused by genetic mutations on the X chromosome,predominantly affecting girls with rare occurrences in boys.This paper reports a case of newly identified gene mutation-induced Rett syndrome admitted to the Department of Pediatrics of Shanghai Sixth Peoples Hospital.The patient,an 8-month-old male,presented with feeding difficulties and delayed development for 8 months.Born at 35 weeksgestation due to“fetal intrauterine distress”,the patient was delivered by cesarean section and subsequently admitted to our department.During hospitalization,the patient had an apnea caused by choking on breastfeeding,and the weight gain and oral milk volume of the patient was still not satisfactory after adjusting the feeding frequency and volume.Referred to the pediatric hospital for feeding difficulties,the patient was diagnosed with neonatal enteritis and had multiple transcutaneous oxygen drops during feeding.After conservative treatment,including fasting,rehydration,anti-infective therapy,and oral training,the patients oral intake improved,and he was discharged upon the familys request.At the time of presentation,the patient had difficulty lifting his head,could not sit independently or crawl,could hold toys but not pass them between hands,responded to sounds,unconsciously said dad and mom,repeated simple syllables,made eye contact with adults,and exhibited involuntary head shaking.Physical examination revealed slightly increased limb muscle tone,normal muscle strength,present physiological reflexes,and absent pathological reflexes.Thyroid-stimulating hormone is elevated after birth,and cardiac ultrasound showed a patent foramen ovale.Whole genome sequencing revealed a missense mutation in the methyl-CpG-binding protein 2(MECP2)gene c.317G>A(p.Arg106Gln).At 9 months of age,the patient was admitted to the pediatric hospital for severe pneumonia and required mechanical ventilation via endotracheal intubation.Despite treatment,he could not be weaned off mechanical ventilat

关 键 词：RETT综合征 甲基化CpG结合蛋白2 基因突变 男童 

分 类 号：R748[医药卫生—神经病学与精神病学]