摘要
目的报告1例Boonsta-Bosch-Schaff视神经萎缩综合征(BBSOAS)并婴儿痉挛症的临床特点、诊治过程并复习文献。方法回顾性分析解放军总医院第一医学中心住院治疗的1例BBSOAS并婴儿痉挛症患儿的临床资料,检索在线人类孟德尔遗传数据库(OMIM)、PubMed、中国知网、万方数据知识服务平台等数据库,综合文献结果,探讨BBSOAS并婴儿痉挛症的临床特点,探讨其表型-基因型关系及治疗效果。结果本例患儿男,9月龄,因“间断抽搐4个月”入院。患儿全面发育落后,追视差,眼底检查可见视盘苍白(萎缩、小视盘),痉挛发作,脑电图提示高度失律,遗传学检测发现NR2F1基因新发错义突变c.383G>A(p.Cys128Tyr),诊断为“BBSOAS;婴儿痉挛症”。给予促肾上腺皮质激素(ACTH)及多种抗癫痫药后痉挛发作未控制,复查脑电图仍有高度失律,院外口服吡仑帕奈后2周,患儿出现发热,热退后痉挛发作完全控制。检索多个数据库并手动筛选后共获得英文文献9篇,共46例BBSOAS,其中9例合并婴儿痉挛症,其基因突变导致的氨基酸改变全部位于DNA结构域内,均可见到视神经萎缩或(和)视神经发育不全。结论导致本例BBSOAS并婴儿痉挛症的NR2F1基因新发错义突变c.383G>A未见文献报道。婴幼儿如出现视神经萎缩或者发育不全合并痉挛发作,应考虑BBSOAS的可能,必要时应完善基因检查。吡仑帕奈对于此类患儿可能是一种具有潜力的痉挛控制药物。
Objective To report a case of Boonsta-Bosch-Schaff optic atrophy syndrome(BBSOAS)with infantile spasm,its clinical features as well as diagnosis and treatment process,and review the relevant literature.Methods Retrospectively analyze the clinical data of a case of BBSOAS with infant spasm patient in the First Medical Center of PLA General Hospital,retrieve the databanks of online human Mendelian genetic database(OMIM),PubMed,CNKI and Wanfang Medical Online,explore the clinical characteristic of BBSOAS with infant spasm patients,the relationship between the phenotype-genotype,and the therapeutic effect.Results The patient was a 9-month-old boy admitted to hospital due to"intermittent convulsions for 4 months".The growth and development of the child delayed,gaze following was poor;fundus examination showed pale optic disc(atrophy,small optic disc),spasm attack,and electroencephalogram indicated hypsarrhythmia.Genetic test found de novo missense mutation in NR2F1 gene c.383G>A(p.YS128tyr),so diagnosed as BBSOAS and Infantile spasms.The spasticity was not controlled and hypsarrhythmia was still existed in electroencephalogram after adrerrmrticotropic hormone(ACTH)and a variety of antiepileptic drugs were administered.Fever occurred 2 weeks after out of hospital oral perampanel,spasms was completely controlled after the febrile retrograde.A total of 9 English references were obtained by searching multiple databases and manual screening,and a total of 46 cases of BBSOAS were found,among which 9 cases were complicated with infantile spasms.All the amino acid changes caused by NR2F1 gene mutation were located in DNA-binding domain,and optic nerve atrophy or/and hypoplasia were observed.Conclusions The new missense mutation of NR2F1 gene c.383G>A that caused BBSOAS and infantile spasm is no literature report before.In case of optic atrophy or hypoplasia associated with spasm in infants and young children,the doctor should consider the possibility of BBSOAS,and do the genetic examination if necessary.Perampanel may be a po
作者
戈文蓉
万林
杨光
Ge Wen-Rong;Wan Lin;Yang Guang(Department of Pediatric,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China;Department of Pediatric,the First Medical Center of Chinese PLA General Hospital,Beijing 100853,China)
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2020年第9期940-946,共7页
Medical Journal of Chinese People's Liberation Army
基金
国家自然科学基金(81671279)
解放军总医院医疗大数据与人工智能研发项目(2019MBD-004)。
