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Imaging in von hippel-lindau syndrome: a case report
Subject Area:
Health Sciences
Abstract:
Von Hippel-Lindau (VHL) syndrome is a multisystem disease caused by mutations of the VHL gene. In patients with family history of this syndrome, the diagnosis is usually easy to establish and these patients require screening for various lesions. However, diagnosis of this syndrome, in the absence of family history, is challenging. We present a case of VHL syndrome in a young female, with no family history. The case highlights the significance of high degree of clinical suspicion and close follow up, for lesions of VHL syndrome, in patients with cerebellar hemangioblastoma.
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