Von Hippel-Lindau disease is an autosomal dominant neurocutaneous disorder characterized by a high incidence of cysts in multiple organs and tumor development. Common manifestations include renal cell carcinoma in 25-40% of cases, cerebellar hemangioblastoma, retinal angioma, pancreatic cysts and tumors, and pheochromocytoma. Imaging findings include lesions that are intermediate to high signal on MRI and variably enhancing on CT and IVU.

1. Von Hippel –Lindau disease
David Sutton
Ch 30 / page 937
Presented by Dr Laith Fadhel Al Hialy
MBchB . PGCR

2. Von Hippel-Lindau syndrome (VHL) is an autosomal dominant , neurocutaneous
disorder , have high incidence of multiple cysts in variety of organs , and tumor
association
• Kidneys 75%
•Liver and spleen 50 %
•Pancreas cysts ,insufficiency
and DM
•RCC 25-40 % multifocal 75 %
•Cerebellar Hemangioblastoma
•Retinal angioma
•Pancreatic adenocarcenoma &
adenoma
•Epidyimal cyst adenoma
•Pheochromcytoma

3. Cerebellar Hemangioblastoma

4. Retinal angioma

5. Pancreatic adenocarcenoma & cysts

6. Pheochromcytoma

7. RCC 25-40 % multifocal 75 %
On MRI / intermediate signal on T1 , weighted , intermediate or high on T2 , w ,
high signal on STIR 10-15 % cystic enhance with contrast , destroyed renal
structure , DDX infiltrative TCC

8. RCC By CT
On CT / iso – hypo dense to renal tissue , occasionally hyper dense variable
enhancement / 1/3 show calcification

10. RCC By IVU
On IVU / soft tissue mass , 10 % show calcification ( dense – central – amorphous
) displaces calyces , distorts renal outline , loss renal function { tumor less than 3
cm not seen by IVU }