Von hipple- lindau syndrome
Inheritance:
Autosomal dominant
Chromosome 3
Clinical diagnosis:
1) on presence of multiple hemangioblastomas of the CNS.
2) One hemangioblastoma plus a visceral manifestation.
3) One central or visceral manifestation in a patient with an affected first order family member.
Common lesions and there approximate incidences are as follows:
1) Retinal angiomas (40-50%)
2) Hemangioblastomas (40-80%)
3) Cerebellum (75% of Hemangioblastomas in VHL)
4) Spinal cord (25% of Hemangioblastomas in VHL)
5) Visceral cyst and neoplasm (50-70%)