Sunday, 19 September 2010

MRCP revision battle 15.2: Von Hippel Lindau disease

Von Hippel Lindau disease is a rare autosomal dominal condition that results in haemangioblastomas in:
  • cerebellum (may present as ataxia)
  • spinal cord
  • kidney
  • retina (may present as visual loss)

It is associated with bilateral renal cell carcinomas (develop in approximately 50% of patients with VHL) and pheochromocytomas.

For those of you who are feeling really geeky the gene responsible is on chromosome 3 and it is a mutation in a tumour supressor gene.

So after that brief acquaintance, lets move on to a condition I'd never heard of before today - neuralgic amyotrophy...