Von Hippel Lindau Disease

• Etiology:
  — Phakomatosis
  — Autosomal dominant
  — Associated with deactivation of VHL tumor suppressor gene on chromosome 3
• Imaging Neurological:
  — Cerebellar hemangioblastoma (44-72%)
  — Retinal hemangioblastoma (45-59%)
  — Spinal cord hemangioblastoma (13-59%)
  — Medullary hemangioblastoma (5%)
• Imaging Gastrointestinal:
  — Liver cysts
  — Pancreatic cysts (50-91%)
  — Neuroendocrine tumor of pancreas (5-17%)
  — Serous microcystic adenoma of pancreas (12%)
• Imaging Genitourinary:
  — Renal cysts (59-63%)
  — Renal cell carcinoma (24-45%)
  — Pheochromocytoma (0-60%) – more often multiple (bilateral 50-80%) and ectopic (paragangliomas) (15-18%)
  — Papillary cystadenoma of epididymis (10-60%) – if bilateral is virtually pathognomonic for von Hippel Lindau and is usually located at head of epididymis and often mixed cystic and solid and not malignant
• DDX:
• Complications:
• Treatment:
• Clinical: Most common causes of death related to renal cell carcinoma and complications from cerebellar hemangioblastomas

Radiology Cases of Von Hippel Lindau Disease

Radiology Cases of Hemangioblastoma in Von Hippel Lindau Disease