伴癫痫发作的Snijders Blok-Campeau综合征1例基因变异分析并文献复习  

Analysis of genetic variants in a case of Snijders Blok-Campeau syndrome with epilepsy and literature review

作　　者：黄礼萍 王亮亮 李方宁 潘宁 李朝阳[2] HUANG Liping;WANG Liangliang;LI Fangning;PAN Ning;LI Chaoyang(Department of Pediatrics,Shanxi Medical University,Taiyuan,Shanxi 030000,China;Department of Neurology,Children’s Hospital of Shanxi,Taiyuan,Shanxi 030000,China)

机构地区：[1]山西医科大学儿科医学系,山西太原030000 [2]山西省儿童医院神经内科,山西太原030000

出　　处：《中国优生与遗传杂志》2024年第3期572-576,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨伴癫痫发作的Snijders Blok-Campeau综合征(SBCS)的临床特征及基因变异特点。方法回顾性分析1例伴癫痫发作的SBCS患儿的临床资料,并进行相关文献复习。结果患儿,男,7岁,抽搐表现为局灶性发作,语言发育迟缓、构音障碍,伴特殊面容(前额稍突出,眼距宽,眼裂稍小,鼻梁宽,上唇薄,尖下巴)。全外显子组检测发现CHD3基因存在新发可能致病性杂合突变c.1100C>T(p.S367L),最终确诊为SBCS。文献检索具有癫痫发作的SBCS共9例,国内尚未有报道;癫痫发作的严重程度从仅出现脑电图异常到难治性癫痫不等;其余临床表型相似,均主要表现为全面发育迟缓、智力障碍、语言障碍及特殊面容。结论发现与SBCS相关的CHD3基因新变异;伴癫痫发作的SBCS的变异类型及位点与临床表型无明显相关性。临床上具有癫痫发作且存在语言障碍伴特殊面容的患儿,需注意CHD3基因变异导致的SBCS,完善基因检测有助于尽早诊断。Objective To explore the clinical and gene variants characteristics of Snijders Blok-Campeau syndrome(SBCS)with epilepsy.Methods The clinical data of a child with SBCS with epilepsy were retrospectively analyzed,and the relevant literatures were reviewed.Results The patient,male,7 years old,showed focal seizures,language retardation,dysarthria,and special facial features(slightly prominent forehead,wide eye spacing,slightly small eye slits,wide nose,thin upper lip,pointed chin).A de novo heterozygous mutation,c.1100C>T(p.S367L),likely pathogenic,was detected in the CHD3 gene via total exon gene detection,and SBCS was finally diagnosed.A total of 9 cases of SBCS with epilepsy were reported in literature search,and none in Chinese article.The severity of seizures ranges from EEG abnormalities only to refractory epilepsy.The other clinical phenotypes were similar,mainly manifested as global developmental delay,intellectual disability,language disorder and pecial facial features.Conclusion A new mutation of CHD3 gene associated with SBCS was found.There was no significant correlation between the variation types and loci of SBCS with epilepsy and clinical phenotype.The possibility of SBCS needs to be considered when epilepsy occur in children with clinical speech disorders and associated specific facial features,and genetic testing is performed for early clarification if necessary.

关 键 词：Snijders Blok-Campeau综合征 CHD3基因 局灶性发作 构音障碍 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R741[医药卫生—临床医学]