中国临床医学2025，Vol.32Issue(1)：135-139,5.DOI:10.12025/j.issn.1008-6358.2025.20241253
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
刘福惠 1韩总明 1李明磊 2吕祖芳2
作者信息
- 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
- 折叠
摘要
Abstract
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Key words
cerebral cavernoma/programmed cell death 10 gene/headache/child分类
医药卫生引用本文复制引用
刘福惠,韩总明,李明磊,吕祖芳..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[J].中国临床医学,2025,32(1):135-139,5.
