Cerebral cavernoma in a child caused by programmed cell death 10 gene mutation: a case report
10.12025/j.issn.1008-6358.2025.20241253
- VernacularTitle: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
- Author:
Fuhui LIU
1
;
Zongming HAN
1
;
Minglei LI
2
;
Zufang LÜ
2
Author Information
1. School of Clinical Medicine, Shandong Second Medicine University, Weifang 261000, Shandong, China.
2. First Department of Pediatrics, Weifang People’s Hospital, Weifang 261041, Shandong, China.
- Publication Type:Clinicalcaseanalysis
- Keywords:
cerebral cavernoma;
programmed cell death 10 gene;
headache;
child
- From:
Chinese Journal of Clinical Medicine
2025;32(1):135-139
- CountryChina
- Language:Chinese
-
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.
