程序性细胞死亡因子10基因突变致儿童脑海绵状血管瘤1例报告  

Cerebral cavernoma in a child caused by programmed cell death 10 gene mutation:a case report

作　　者：刘福惠 韩总明 李明磊[2] 吕祖芳[2] LIU Fuhui;HAN Zongming;LI Minglei;LÜZufang(School of Clinical Medicine,Shandong Second Medicine University,Weifang 261000,Shandong,China;First Department of Pediatrics,Weifang People’s Hospital,Weifang 261041,Shandong,China)

机构地区：[1]山东第二医科大学临床医学院,潍坊261000 [2]潍坊市人民医院小儿内一科,潍坊261041

出　　处：《中国临床医学》2025年第1期135-139,共5页Chinese Journal of Clinical Medicine

摘　　要：回顾性分析1例7岁女性脑海绵状血管瘤患儿的临床资料及基因检测结果。患儿因头痛1个月入院,头颅磁共振提示脑海绵状血管瘤,基因检测示程序性细胞死亡因子10(programmed cell death 10,PDCD10)基因存在致病性杂合突变c.456T>G(p.Tyr152Ter,61),父母该位点为野生型。患儿无癫痫发作、脑出血及神经功能障碍等表现,给予保守治疗,门诊定期复查头颅磁共振。The clinical data and genetic test results of a 7-year-old female child with cerebral cavernoma were retrospectively analyzed.The child was admitted to the hospital due to a one-month headache.Brain MRI showed cerebral cavernoma.The genetic testing showed a pathogenic heterozygous mutation c.456T>G(p.Tyr152Ter,61)in the programmed cell death 10(PDCD10)gene,while both parents had the wild-type at the locus.The child had no symptoms of epileptic seizures,cerebral hemorrhage,or neurological dysfunction,and received conservative treatment,with regular outpatient follow-up MRI scans.

关 键 词：脑海绵状血管瘤 程序性细胞死亡因子10基因 头痛 儿童 

分 类 号：R739.41[医药卫生—肿瘤]