Von Hippel –Lindau disease

David Sutton Ch 30 / page 937

Presented by Dr Laith Fadhel Al Hialy MBchB . PGCR

 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

Cerebellar Hemangioblastoma

Retinal angioma

Pancreatic adenocarcenoma & cysts

Pheochromcytoma

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

RCC By CT

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

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 }