von Hippel-Lindau disease manifesting as a sellar and spinal cord solid-cystic mass: a case report
10.3760/cma.j.cn113694-20250415-00211
- VernacularTitle:表现为鞍区及脊髓囊实性占位的von Hippel-Lindau综合征1例
- Author:
Yuzhen WEI
1
;
Gehong DONG
;
Decai TIAN
;
Jia LI
;
Shiwei LI
;
Huabing WANG
Author Information
1. 首都医科大学附属北京天坛医院神经病学中心，北京100070
- Publication Type:Journal Article
- Keywords:
von Hippel-Lindau disease;
Hemangioblastoma;
Polycystic pancreas
- From:
Chinese Journal of Neurology
2025;58(9):981-985
- CountryChina
- Language:Chinese
-
Abstract:
von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumor predisposition syndrome. Central nervous system hemangioblastoma is one of its major clinical manifestations, commonly occurring in the infratentorial region and spinal cord, while supratentorial involvement is rare. A 23-year-old female patient with sellar and spinal hemangioblastomas, along with polycystic pancreas, who presented with back pain and decreased vision in the left eye, was reported. The diagnosis of VHL disease was confirmed based on family history, pathological findings, and genetic testing. This case was reported to enhance clinicians′ awareness of this disease, facilitating early diagnosis and intervention for patients and their families to improve clinical outcomes.
