Von Hippel-Lindau syndrome

Question 1

Von Hippel-Lindau (VHL) syndrome is ?

Answer 1

AD

Question 2

abnormality related to the chromosome?

Answer 2

3p

Question 3

Von Hippel-Lindau syndrome features ?

Answer 3

cerebellar haemangiomas: these can cause subarachnoid

retinal haemangiomas: vitreous haemorrhage

enal cysts (premalignant)

phaeochromocytoma

extra-renal cysts: epididymal, pancreatic, hepatic

endolymphatic sac tumours

clear-cell renal cell carcinoma