Chinese Journal of Clinical Medicine 2025;32(1):135-139

doi:10.12025/j.issn.1008-6358.2025.20241253

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

Fuhui LIU 1 ; Zongming HAN 1 ; Minglei LI 2 ; Zufang LÜ 2

Affiliations

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Keywords

cerebral cavernoma; programmed cell death 10 gene; headache; child

Country

China

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.