摘要
目的报道1例Kabuki综合征伴婴儿痉挛症的临床特点、诊治过程并文献复习。方法回顾性分析解放军总医院第一医学中心收治的1例Kabuki综合征合并婴儿痉挛症患儿的临床资料,检索PubMed、中国知网、万方数据知识服务平台及在线人类孟德尔遗传数据库(OMIM),结合文献报道,总结Kabuki综合征合并婴儿痉挛症的临床特点,并探讨其与基因型的关系。结果本例患儿男性,1岁7个月,因"生长发育落后,间断抽搐1年1个月余"入院。患儿生长发育全面落后,小头畸形,身材矮小,痉挛发作,脑电图提示高度失律,遗传学检测发现KDM6A基因新发移码突变(c.2170-c.2171delAT,p.I724Ifs*5),诊断为"婴儿痉挛症;Kabuki综合征"。给予ACTH输注后,患儿痉挛发作完全控制,多次复查脑电图较前明显好转。共获得英文文献16篇、中文文献1篇,共48例Kabuki综合征合并癫■患儿,其中6例为Kabuki综合征合并婴儿痉挛症,这6例中仅有2例基因报告可得,1例为KMT2D基因错义突变(c.96C>G,p.Asp32Glu),1例为KDM6A基因移码突变(c.25152518del,p.Asn839Valfs)。结论本次发现的导致Kabuki综合征合并婴儿痉挛症的KDM6A基因新发移码突变(c.2170-c.2171delAT)未见文献报道。Kabuki综合征可合并婴儿痉挛症,如出现痉挛发作并伴特殊面容者,应警惕Kabuki综合征可能,必要时完善基因检查;早期治疗可完全控制发作,脑电图恢复良好,痉挛预后较佳。
Objective Through literature review to retrospectively study the clinical characteristics,treatment and prognosis of Kabuki syndrome with infantile spasm.Methods The clinical data of a case of Kabuki syndrome with infantile spasm hospitalized at the first medical center of Chinese PLA General Hospital in August 2019 were retrospectively analyzed,search on PubMed,CNKI,Wanfang Medical Online and online Mendelian Inheritance in Man(OMIM),to summarize the clinical data of Kabuki syndrome with infantile spasm and to explore its relationship with genotypes.Results A boy,1 year and 7 months old,was admitted for"growth lag,intermittent convulsions for more than 1 year and 1 month".His growth and development were generally backward,had microcephaly,short stature and spasms,magnetic resonance imaging of brain showed normal,the thyroid hormone and growth hormone levels were normal,genetic analysis revealed a denovo frameshift mutation in KDM6A gene(c.2170-c.2171 delAT,p.I724Ifs^*5),electroencephagram showed hypsarrhuthmia,with a series of convulsions,diagnosed as"infantile spasm;Kabuki syndrome",after treating with ACTH,the spasms was completely controlled,multiple reexamination of EEG significantly improved.A total of 16 English literatures and 1 Chinese literature were obtained.There were 48 children had been diagnosed as Kabuki syndrome with epilepsy,including 6 children as Kabuki syndrome and infantile spasm.Among the above 6 cases,only 2 genetic test results were reported,1 was missense mutation of KMT2D gene(c.96c>G,p.apsp32glu),and 1 was frameshift mutation of KDM6A gene(c.2515_2518del,p.apsn839valfs).Conclusion The new frameshift mutation of KDM6A gene(c.2170-c.2171delAT)in this child could lead to infantile spasm of Kabuki syndrome.Kabuki syndrome could be associated with infantile spasms.If spasm occurs and accompanied by a special face,Kabuki syndrome needs to be considered,gene sequencing should be performed if necessary,early treatment can completely control infantile spasms in all children with Kabuki syndrome,the abnormal of EEG could back to normal,will have a favorable prognosis.
作者
万林
张梦娜
李志超
王静
邹丽萍
杨光
Wan Lin;Zhang Meng-Na;Li Zhi-Chao;Wang Jing;Zou Li-Ping;Yang Guang(Department of Pediatric,the First Medical Center,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4期430-434,共5页
Medical Journal of Chinese People's Liberation Army
基金
国家自然科学基金(81671279)。
