文献类型：期刊文献

中文题名：广泛脑白质改变的成年发病17q12微重复综合征1例

英文题名：A case of adult 17q12 microrepeat syndrome with extensive white matter alteration as the main clinical feature and literature review

作者：张乐[1];臧沛溪[2];高福林[2];虎鹏娟[1];张毅[2]

第一作者：张乐

机构：[1]甘肃中医药大学第一临床医学院(甘肃省人民医院),兰州730000;[2]甘肃省人民医院神经内科

第一机构：甘肃中医药大学临床医学院

年份：2022

卷号：48

期号：7

起止页码：436

中文期刊名：中国神经精神疾病杂志

外文期刊名：Chinese Journal of Nervous and Mental Diseases

收录：CSTPCD;;北大核心:【北大核心2020】；CSCD:【CSCD2021_2022】；

基金：甘肃省科技计划项目(编号:20JR5RA152);甘肃省卫生科研计划(编号:GSWSKY2020-03)。

语种：中文

中文关键词：17q12;微重复综合征;DNA拷贝数变异;癫痫;言语不清;意识障碍;脑白质病;基因检测

外文关键词：17q12;Microrepeat syndrome;DNA copy number variation;Epilepsy;Alalia;Consciousness disor?der;Leakoen cephalopathy;Gene testing

摘要：本文报告1例以广泛脑白质改变为主要临床特征成年期间发病的17q12微重复综合征。患者为19岁男性,以癫痫起病,体格检查发现患者嗜睡,精神差,言语不利,时间、地点和人物定向力、计算力、理解力异常;头颅MR示广泛脑白质改变;全外显子组测序检测示chr17q12区域存在1.4M碱基杂合反复重复的致病变异。由于17q12微重复综合征目前尚缺乏有效的治疗措施,本例患者予以抗癫痫及营养神经等对症治疗。对于不明原因的脑白质病变,应详细询问患者病史并完善遗传检测。
This paper reports a case with extensive brain white matter changes as the main clinical feature with onset during adulthood 17q12 syndrome.The patient was a 19-year-old male with epilepsy onset.Physical examination revealed that the patient was lethargic,mentally poor,speech inconvenient,abnormal in orientation,calculation,and comprehension of time,place,and person;MRI of the head showed extensive white matter changes.Whole-exome sequencing revealed a pathogenic variant of 1.4M base heterozygosity repeatedly repeated in the chr17q12 region.Due to the lack of effective treatment for 17q12 syndrome,this patient was treated symptomatically with antiepileptic and nutritional therapy.For unexplained cerebral white matter lesions,a detailed patient history should be taken and genetic testing should be performed for possible 17q12 syndrome.The report of this case enriches the clinical manifestations of this syndrome and has a certain guiding value for clinical work.