Skip to content

Von hipple Lindau Syndrome

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant condition predisposing to neoplasia. It is due to an abnormality in the VHL gene located on short arm of chromosome 3

Features

  • cerebellar haemangiomas: these can cause subarachnoid haemorrhages
  • retinal haemangiomas: vitreous haemorrhage
  • renal cysts (premalignant)
  • phaeochromocytoma
  • extra-renal cysts: epididymal, pancreatic, hepatic
  • endolymphatic sac tumours
  • clear-cell renal cell carcinoma
© Image used on license from Radiopaedia

CT scan showing a cerebellar haemangioma in a patient with Von Hippel-Lindau syndrome.

© Image used on license from Radiopaedia

MRI showing renal cysts in patient with known Von Hippel-Lindau syndrome.