von Hippel-Lindau syndrome

• phakomatosis
• autosomal dominant (variable penetrance)

• hemangioblastoma: most frequent cause of death
  • cerebellar (most common)
  • also medullary and spinal
• retinal angiomatosis (45%)
• renal cell Ca: 2nd most common cause of death
• pheochromocytoma (17%)

• cortical renal cysts (75%)
• cysts in virtually any organ
• renal/liver hemangioma/adenoma
• pancreatic cystic neoplasms, islet-cell tumors
• paraganglioma

© 2002, C.E. Kahn, Jr.
2002-04-18