DYNC1H1导致婴儿癫痫性痉挛综合征2例并文献复习OA北大核心CSTPCD

Objective To report the clinical characteristics,diagnosis,and treatment process of two infants with infantile epileptic spasms syndrome(IESS)caused by DYNC1H1 mutation,and to review the relevant literature.Methods A retrospective analysis was conducted on the clinical data of two IESS patients with DYNC1H1 mutations who were treated at the First Medical Center of Chinese PLA General Hospital.Databases such as PubMed,Online Mendelian Inheritance in Man(OMIM),China National Knowledge Infrastructure(CNKI),and Wanfang Data Knowledge Service Platform were searched to obtain relevant literature,aiming to summarize the clinical characteristics of IESS patients with DYNC1H1 mutations,and to explore the relationship between treatment and phenotype-genotype.Results Two IESS patients with DYNC1H1 mutations were identified(case 1:c.874C>T,p.Arg292Trp;case 2:c.5884C>T,p.Arg1962Cys).Both patients presented with the onset of spastic seizures in infancy,which were poorly controlled with various medications.They exhibited severe developmental delay,and cranial magnetic resonance imaging in case 1 revealed pachygyria.A search of multiple databases and manual screening yielded a total of 7 English articles and 2 Chinese articles.Fifteen cases of DYNC1H1-related IESS were identified,of which 12 cases progressed to drug-resistant epilepsy and 12 cases had significant congenital structural abnormalities of the cranium.Nine different mutation sites were distributed in 3 structural domains,including 4 cases in the tail domain,3 cases in the motor with ATPase subunit domain,and 2 cases in the stalk or microtubule-binding domain.Conclusions DYNC1H1 gene variations can cause IESS,often accompanied by brain developmental abnormalities and developmental delay/intellectual disability.The poor prognosis may be attributed to the combined effects of gene dysfunction and brain developmental abnormalities.