26 - VON HIPPEL-LINDAU DISEASE

Summary

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder with a 95% penetrance at age 60 and incomplete expression that is characterized by the development of various benign and malignant tumors and cysts. Hemangioblastoma (HB), the most characteristic central nervous system (CNS) lesions, are highly vascular tumors comprising approximately 3% of all tumors of the CNS. HBs are diagnosed by magnetic resonance imaging (MRI) of the brain and the spinal cord. Presentation of HBs with a stroke syndrome is rare despite their highly vascular nature, and the risk of hemorrhage associated with them is not yet known. Screening for VHL disease following the diagnosis of a cerebral HB is indispensable given the high risk of associated lesions with hereditary forms. The best treatment for this tumor is surgical resection. If the tumor is difficult to remove from its primary site, it can sometimes be treated with radiosurgery.