Inherited disorder causing multiple tumours, both benign and malignant, in the central nervous system (CNS) and viscera

Aetiology

• Autosomal dominant mutation in VHL gene which leads to accumulation of HIF proteins and stimulation of cellular proliferation

Clinical features

• May be diagnosed from family history and genetic testing
• May present with symptoms of the various tumours
• Range of vascular tumours

Investigations

• Regular and lifelong surveillance for tumours
• Genetic counselling/testing of family members

Management

• Manage tumours appropriately