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

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。

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.