Von Hippel-Lindau disease

Case contributed by Dr Jane McEniery


History withheld.

Patient Data

Age: 14
Gender: Male

MR brain/cervical spine:

  • lesions within both globes associated with the retina which are isointense on T2/T1 and demonstrate avid enhancement
  • enhancing lesion in the left cerebellar hemisphere
  • cystic/solid lesion near the cervicomedullary junction at the dorsal aspect of the medulla with a prominent feeding vessel and avid enhancement of the solid component
  • edema in the cervical spine extending inferiorly to C7 level
  • small enhancing lesion at C6/7 level

These lesions are characteristic for hemangioblastomas which suggest an underlying diagnosis of von Hippel-Lindau disease.

Case Discussion

The constellation of findings indicates a diagnosis of von Hippel-Lindau disease.

On subsequent follow up investigations, the patient went on to develop renal cell carcinomas and pancreatic cysts.

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Case information

rID: 65983
Published: 27th Apr 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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