Von Hippel Lindau syndrome

Question 1

What is the inheritance VHLS?

Answer 1

Autosomal dominant

Question 2

What are the clinical manifestations of VHLS?

Answer 2

1. Multiple CNS hemangioblastomas (2/3 cystic 1/3 solid enhancing nodule)
   a) cerebellum (75080%) usu. after 3rd decade of life
   b) Spinal cord (10-30%) often 80% associated with syringomyelia
   c) Retinal hemangioblastomas
2. Renal lesions:
   a) Multiple renal cysts
   b) Renal cell carcinoma ~70% by age 60yo
3. Pheochromocytoma
4. Paragangliomas
5. Pancreatic lesions:
   a) Pancreatic cysts
   b) neuroendocrine tumors 5-17%
6. Endolymphatic sac tumors 10-16%
7. Epididymal and broad ligament cystadenomas

Question 3

What is the incidence of VHL?

Answer 3

1 in 36 000

Question 4

What percentage of VHL is a de novo mutation?

Answer 4

20%