Familial incidence of obstructive hydrocephalus due to posterior fossa tumours leading to the diagnosis of von Hippel-Lindau disease--a case report.

Von Hippel-Lindau disease (VHLD) is an autosomal dominant disorder predisposing to the development of different histological types of tumours with predominance of CNS haemangioblastomas in the majority of cases. We present a case of a 35-year-old man with obstructive hydrocephalus due to multiple posterior fossa tumours. Familial history revealed two relatives operated on previously because of a posterior fossa tumour (in one case haemangioblastoma was diagnosed). During surgery two cerebellar tumours were removed radically via the suboccipital approach. On a histopathological examination the typical features of haemangioblastoma were found in both tumours composed of stromal cells and a dense network of vessels, mostly capillaries. The presence of neoplastic infiltration with angiogenesis in the surrounding cerebellar tissue was evidenced in the presented case. Based on the clinical and histopathological data VHLD was diagnosed. Genetic analysis confirmed the presence of the von Hippel-Lindau gene mutation. The case presented suggests that genetic disregulation in VHLD may be responsible for a more aggressive behaviour of VHLD-related haemangioblastomas in comparison with sporadic disease.