Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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October 9, 2014
Von Hippel-Lindau Disease
- von Hippel-Lindau disease (VHL) is an autosomal dominant inherited neoplastic disorder resulting from a mutation in the VHL tumor suppressor gene on chromosome 3p25.3.
- Multiple tumors, including CNS hemangioblastomas, renal cell carcinomas (RCC), renal cysts, and pheochromocytoma, are seen.
- Diagnostic Criteria:
- CNS and retinal hemangioblastoma
- OR: Hemangioblastoma and at least one of the following: renal/pancreatic/hepatic/epididymal cysts, pheochromocytoma, or renal cancer
- OR: A family history of VHL and at least one of the following: hemangioblastoma, visceral changes, pheochromocytoma, or renal cancer
- Key Diagnostic Features:
- The hallmark lesion is the hemangioblastoma, most often found in the cerebellum, but may be elsewhere within the neural axis; multiple hemangioblastomas are often present.
- Flow voids representing enlarged feeding and draining vessels can be seen.
- Presence of associated lesions as mentioned above can be seen elsewhere in the body.
- DDx:
- Pilocytic astrocytoma
- Metastasis
- Rx: Surgery