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...