ABSTRACT
The germinal mutation of the Von Hippel Lindeau (VHL) tumor suppressor gene predisposes to the development of benign or malignant richly vascularized tumors. VHL disease is an autosomal-dominant disorder with complete penetrance at the age of 60 years. Screening for people at risk is strongly recommended, and careful monitoring allows treatment of the tumor lesions as early as possible. A 42-year-old man sought medical consult for hematuria, disabling dizziness and balance disorders lasting for two months. The neurological examination revealed the presence of a kinetic cerebellar syndrome. The cerebro-spinal magnetic resonance imaging revealed multiple hemangioblastomas, both encephalic and medullar. Abdominal computed tomography revealed a big solid mass in the left kidney and multiple intra-parenchymal cystic lesions in the right kidney and the pancreas. The diagnosis of VHL disease was strongly suspected. The operative indication of brain damage and renal mass have been submitted. The pathological study of the renal surgical specimen revealed a clear cell carcinoma. The post-operative course was uneventful and all the symptoms have disappeared. Genetic study and close follow-up are recommended for this disease.
