SLC35A2基因新发突变致婴儿痉挛症1例并文献复习  

Clinical Characteristics Analysis of a Child with Infantile Spasm Caused by SLC35A2 Gene Mutation and Literature Review

作　　者：林彬城 陈玲[1] LIN Bin-cheng;CHEN Ling(Deparment of Pediatrics,Xiamen Humanity Hospital Affiliated to Fujian Medical University,Xiamen 361006,Fujian Province,China)

机构地区：[1]福建医科大学附属厦门弘爱医院儿科,福建厦门361006

出　　处：《罕少疾病杂志》2022年第2期1-5,9,共6页Journal of Rare and Uncommon Diseases

摘　　要：目的探讨SLC35A2基因突变致婴儿痉挛症(IS)的基因突变特点及临床特征。方法回顾性分析1例IS患儿的病例资料、辅助检查及遗传学检测结果,并复习相关文献。结果患儿女,4个月零1天,因“反复抽搐2周”入院。患儿3月半龄起病,表现为成串痉挛发作。患儿营养中等,运动发育稍落后于同龄儿,有乳头内陷、脚趾重叠等特殊体征。脑电图示不典型高幅失律,头颅MRI示右侧海马脉络膜囊肿,血尿代谢筛查及染色体分析未见异常,基因检测发现SLC35A2基因新发杂合突变c.851T>C(p.Leu284Pro)。给予促皮质素(ACTH)治疗4周后发作消失。结论本文回顾了SLC35A2突变的IS患儿的临床特点,并复习SLC35A2基因变异相关的先天性糖基化障碍Ⅱ型的特征,ACTH可能对这类癫痫性脑病患儿有效,而对ACTH治疗欠佳的病例,新型抗癫痫药吡仑帕奈可能是有潜质的选择。Objective To investigate the characteristics and clinical features of SLC35 A2 gene mutation in infantile spasm. Methods The case data, auxiliary examination and genetic test results of a child with IS were retrospectively analyzed, and relevant literature was reviewed. Results Affected children, 4 months and 1 day, due to "repeated convulsions for 4 weeks" in hospital. The onset of the disease at 3 and a half months was characterized by series of spasmodic seizures. Children with moderate nutrition, motor development slightly behind the children of the same age, there are nipples inward, toes overlap and other special signs. The electroencephalography showed atypical high loss law. The brain magnetic resonance imaging(MRI) showed right hippocampal choroid cyst, no abnormalities were found in genetic metabolism screening and chromosome analysis, and new heterozygous mutation of SLC35 A2 gene was found in gene test C.851 T>c(p.leu284 pro). The seizures disappeared after 4 weeks of treatment with corticotropin(ACTH). Conclusion This article reviewed the SLC35 A2 mutation IS the clinical characteristics of children, and review the SLC35 A2 gene variants associated congenital glycosylation barrier Ⅱ type characteristic, ACTH may be effective for this type of children with epileptic encephalopathy. For patients with poor treatment of ACTH, pirampanil, a new antiepileptic drug, may be a potential choice.

关 键 词：SLC35A2 婴儿痉挛症 先天性糖基化障碍 促皮质素 

分 类 号：R729[医药卫生—儿科] R442.6[医药卫生—临床医学]