Von Hippel-Lindau Disease Manifestating as Recurrent Cerebellar Hemangioblastoma: A Case Report.
- Author:
Kwan Uk YOO
1
;
Chul Ku JUNG
;
Il Woo LEE
;
Chang Myong CHOI
;
Ji Ho YANG
;
Chun Kun PARK
;
Sang Won LEE
;
Joon Ki KANG
Author Information
1. Department of Neurosurgery, Catholic University Medical College, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Recurrent Hemangioblastoma;
von Hippel-Lindau disease;
Tumor suppressor gene;
Cystadenoma;
Omental cyst
- MeSH:
Adult;
Arm;
Brain Neoplasms;
Cystadenoma;
Diagnosis;
Female;
Genes, Tumor Suppressor;
Hemangioblastoma*;
Humans;
Infratentorial Neoplasms;
Pancreas;
Prognosis;
von Hippel-Lindau Disease*
- From:Journal of Korean Neurosurgical Society
1997;26(4):571-577
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cerebellar hemangioblastoma comprises 2% of all brain tumors and 7% 10% of all posterior fossa tumors. It can arise in isolation("sporadic cases") or as a major manifestation of von Hippel-Lindau(VHL) disease, a well known autosomal dominant inherited tumor syndrome. Only 5-30% of these tumors are due to VHL disease. However, cerebellar hemangioblastoma occurs in younger patients, is often multiple and recurrent, and has a poorer prognosis than sporadic cases. We present a case of a 26-year-old woman with a right cerebellar hemangioblastoma, which recurred from a left cerebellar hemangioblastoma resected four years previously. Further evaluation established the diagnosis of VHL disease by demonstrating a cystadenoma in the pancreas and an omental cyst. Recently, the von Hippel-Lindau disease gene has been identified as a tumor suppressor gene and has been mapped to the short arm of chromosome 3(3p 25-26). Its absence or a defect in its structure is responsible for predisposition to the disease.
