A Very Aggressive Hemangioblastomatosis Without VHL Gene Mutation

Hemangioblastoma of the central nervous system may arise as sporadic lesions or as a manifestation of von Hippel-Lindau (VHL) disease. Hemangioblastomatosis, a disseminated form of hemangioblastoma, is an extremely unusual type of the disease which had been reported mainly in non-VHL disease. It is known to exhibit similar clinical features. Most patients underwent surgical resection of the primary lesion, and hemangioblastomatosis developed after variable intervals. Because there is no specific treatment, it has been reported very poor prognosis. A 55-year-old woman initially diagnosed as sporadic hemangioblastoma because satellite left temporal mass was considered as meningioma and evaluation for VHL disease including VHL gene study was negative. 3 years later, she diagnosed as disseminated hemangioblastomatosis and resected left temporal mass was diagnosed as hemangioblastoma, which was compatible with VHL disease. We report a rare case of hemangioblastomatosis in a VHL gene negative woman with some beneficial effect of bevacizumab.