From headache to kidney tumor; an example of von Hippel- Lindau disease.
מילות מפתח
תַקצִיר
BACKGROUND
von Hippel-Lindau disease (VHL) is a rare genetic condition caused by the mutation of the VHL tumor suppressor gene and predisposing to various benign or malignant tumors involving mainly central nervous system (CNS) and retinal hemangioblastomas (RHB). Although considered as occult, multiple renal cysts and renal cell carcinoma (RCC) are frequent in VHL, occurring in nearly two-thirds of patients. RCC is the major neoplasm and the main cause of death in patients with this condition.
METHODS
In this report, we present a case of an occult kidney tumor revealed by neurological symptoms of cerebellar hemangioblastoma.
CONCLUSIONS
Kidney tumor was diagnosed incidentally on abdominal tomography and confirmed by histopathology analysis.