PREPL基因变异致先天性肌无力综合征22型2例并文献复习  

Congenital myasthenic syndrome 22 due to PREPL gene mutation in 2 patients: case report and literature review

作　　者：唐美玲 李文辉[1] 周水珍 Tang Meiling;Li Wenhui;Zhou Shuizhen(Department of Neurology,Children′s Hospital of Fudan University,National Children′s Medical Center,Shanghai 201102,China;Department of Pediatrics,Nantong Rich Hospital/the Fourth Clinical Medical College of Yangzhou University,Nantong 226010,China)

机构地区：[1]国家儿童医学中心复旦大学附属儿科医院神经科,上海201102 [2]南通瑞慈医院/扬州大学第四临床医学院儿科,南通226010

出　　处：《中华实用儿科临床杂志》2023年第5期380-383,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：复旦大学附属儿科医院重点发展项目 (EK2022ZX01)。

摘　　要：回顾性分析复旦大学附属儿科医院2019年2月至2021年11月诊治的2例先天性肌无力综合征22型(CMS22)患儿的临床资料并复习相关文献。2例患儿均为女性,就诊年龄分别为3个月18 d、3个月26 d,临床表现有典型CMS的特征(出生后发病、骨骼肌无力、喂养困难、运动发育迟缓)。基因检测1例患儿为PREPL基因母源性单亲二倍体的纯合框移变异c.1282_1285del(p.F428fs*18);1例为复合杂合变异,父源性与上述患儿相同的框移变异及母源性单等位基因无义变异和剪切变异c.[1501G>T;2020+1G>T],p.[G501*;-]。2例患儿分别在6个月、4个月开始溴吡斯的明治疗,疗程分别为15个月、3个月(仍在治疗中),治疗均有效。文献检索到7篇英文文献,包括本文病例共13例。综合文献发现CMS22新生儿期起病,以喂养困难、运动发育迟缓为主要临床症状,可伴认知障碍、生长激素缺乏、肥胖症,遗传检测可帮助诊断,应尽早治疗、改善症状。Clinical data of two patients with congenital myasthenia syndrome type 22(CMS22)treated at the Children′s Hospital of Fudan University from February 2019 to November 2021 were retrospectively analyzed,and relevant literatures were reviewed.Both patients were female,aged 3 months 18 days and 3 months 26 days,respectively,with typical clinical features of CMS(postnatal onset,skeletal muscle weakness,feeding difficulties,and delayed motor development).Genetic testing revealed that one patient had a homozygous frameshift mutation of the PREPL gene from maternal uniparental disomy c.1282_1285del(p.F428fs*18),and the other one had a compound heterozygous mutation,including the paternal homozygous frameshift mutation of the PREPL gene and maternal monoallelic nonsense mutation and splicing mutation c.[1501G>T;2020+1G>T],p.[G501*;-].Two patients were treated with Pyridostigmine bromide at the age of 6 months old and 4 months old,respectively,and the medication last for 15 months and 3 months(still under treatment),respectively.The treatment was effective.Through literature review,7 English language articles were retrieved,involving 13 cases(2 cases in the presented study were included).The main clinical symptoms of CMS22 included neonatal onset with feeding difficulties and motor development delay,accompanied by cognitive impairment,growth hormone deficiency,and obesity.Genetic testing is favorable to the early diagnosis,early treatment,and symptom relief.

关 键 词：先天性肌无力综合征 PREPL基因 基因型 表型 

分 类 号：R725.9[医药卫生—儿科]