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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December 1, 2016
Disseminated Hemangioblastomatosis
- Background:
- Hemangioblastoma is a WHO Grade I tumor, which predominantly affects the CNS and rarely extra-CNS organs, including the liver, pancreas, and kidneys.
- These tumors account for 1-2.5% of all primary CNS tumors and can present sporadically as benign, unique lesions or in association with Von-Hippel Lindau disease.
- Clinical Presentation:
- Disseminated hemangioblastomatosis is a very rare entity with few cases described.
- It may or may not be associated with Von-Hippel Lindau and has been reported after resection of posterior fossa hemangioblastomas when it results from delayed growth of tumor cells disseminated by surgery. The prognosis is unknown, but reports show poor outcomes.
- Key Diagnostic Features:
- Solid nodules that enhance on postgadolinium images
- Edema is often present in the brain or cord and is caused by extravasation of fluid from the permeable capillaries of the tumor. Eventually a fluid-filled cyst may develop in the periphery of the tumor.
- Occasionally the extravasated fluid can dissect the parenchyma in the cord, producing a syrinx.
- Differential Diagnoses:
- Other disseminated CNS lesions, including glioblastoma, medulloblastoma, ependymoma, meningioma, lymphoma, and metastases
- Treatment:
- Complete surgical excision of the primary lesion; most cases are diagnosed in autopsies, despite early detection of the disease.
- Progressive growth may lead to death despite surgery, irradiation, and chemotherapy, even in patients with a histological appearance of benign hemangioblastomas.
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