摘要
目的探讨儿童交替性偏瘫的临床表现、基因诊断及治疗方法。方法回顾性分析2例交替性偏瘫患儿的临床资料,并进行相关文献复习。结果 2例患儿均为女性,分别于4月龄、6月龄起病,1例的首发症状为交替性偏瘫,另1例的首发症状为惊厥,并于病程第2年出现交替性偏瘫。ATP1A3基因测序显示,2例患儿分别存在c.2401G>A(p.D801N)和c.2731G>C(p.A911P)杂合错义突变,后者在人类基因突变数据库(HGMD)专业版中尚未见报道。结论对临床诊断交替性偏瘫的患儿,建议行ATP1A3基因筛查,有助于确诊及遗传咨询。
Objective To explore clinical manifestations, genetic diagnosis and treatment of childhood alternating hemiplegia.Methods Two patients were clinically diagnosed as alternating hemiplegia. ATP1A3 gene sequencing was performed on these two children and their parents. Literatures on childhood alternating hemiplegia were reviewed. Results Both patients were female.The first symptom of the first girl was alternating hemiplegia occurring at 4-month-old. For the second girl, the first symptom was seizure occurred at 6-month-old, and the typical symptoms including alternating hemiplegia occurred at the second year of course.Heterozygous missense mutations of c.2401G>A (p.D801N) and c.2731G>C (p.A911P) were found in ATP1A3 gene of these twogirls, the latter hasn’t been reported in the Human Gene Mutation Database (HGMD) Professional. Conclusions ATP1A3 genesequencing should be conducted for children clinically diagnosed as alternating hemiplegia, which has important significance for diagnosis and genetic counseling.
作者
张婷
马建南
肖农
ZHANG Ting;MA Jiannan;XIAO Nong(Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2017年第2期129-132,共4页
Journal of Clinical Pediatrics
