Monday, April 22, 2013

Von Hippel-Lindau Disease

Aut-Dom
Deletion of VHL gene on Chr. 3p.

Hemangiobladtomas, cavernous hemangiomas of the:
- cerebellum
- brain stem
- retina

Multiple cysts & adenomas of liver, kidney, pancreas

Initial signs: headaches, loss of vision, ataxia.
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