Von Hippel-Lindau disease

Case contributed by Liz Silverstone


Transferred for neurosurgery

Patient Data

Age: 35 years
Gender: Male

Pre-op in sterotaxis frame


Right paramedian cystic cerebellar mass.

Sterotactic MR, 6 months later

  • 3 cm cystic mass in the right paramedian posterior fossa compressing the 4th ventricle with focal nodular wall enhancement

  • lobulated cystic mass extending inferiorly through the foramen magnum compressing the medulla and spinal cord

Pre-op DTPA for renal function

Nuclear medicine
  • symmetrical differential function.

  • minor distension R upper pole calices.

  • multiple solid renal tumors and hyper-attenuating cysts.

Post-op CT for ?hemorrhage

  • expected post-op findings

  • surgical clips indicate the multiple parenchyma-preserving partial nephrectomies

  • pancreas enlarged by multiple simple cysts

  • V-P shunt

  • post surgical changes

  • CSF tumor seeding over the cerebellar folia

  • two enhancing intramedullary tumors, each associated with a syrinx

  • enlarged spinal arteries associated with the thoracic lesion

  • numerous enhancing foci over the pial surface of the spinal cord indicating seeding

  • multiple areas of leptomeningeal thickening and enhancement

Case Discussion

  • histology confirmed posterior fossa and spinal hemangioblastomas

  • 5 renal tumors excised with clear cell RCCs histology, (4 papillary)

Hemangioblastoma is a common presentation of Von Hippel-Lindau disease and RCC is a common cause of death. This man also has a retinal angioma.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.