Von Hippel-Lindau syndrome – a case report

Abstract

Von Hippel-Lindau disease (vHL, familial cerebello-retinal angiomatosis) is a rare genetic autosomal dominant disorder associated with predisposition to vascular tumors. Mutations of VHL tumor suppressor gene, located on chromosome 3p25-26, are responsible for clinical manifestation of the disease. The VHL gene product encodes VHL protein, which is responsible for HIF-1 (hypoxia-inducible factor-1) dependent cell cycle regulation and cellular pathways mediated by VEGF, PDGF, TGF-α, EPO. The mechanism substantiates the hypoxia dependent vascular tumor growth caused by loss of wild-type VHL protein. The clinical spectrum of vHL syndrome includes multiple tumors of various localization and low histologic grade, often bilateral. The most typical for the syndrome are: hemangioblastoma of central nervous system (typically posterior fossa or medulla), retinal hemangioblastoma, renal cell carcinoma and pheochromocytoma. The aim of the case report is to remind the typical clinical manifestation of von Hippel-Lindau syndrome, update the diagnostic criteria, recommended diagnostic and follow up methods.