von Hippel-Lindau disease (VHL) is an autosomal-dominant neoplasia syndrome that is the result of a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. Patients with VHL are predisposed to develop lesions of the central nervous system and viscera. Central nervous system lesions include hemangioblastomas (the most common tumor in VHL) and endolymphatic sac tumors (ELSTs). Visceral manifestations include renal carcinomas and cysts, pancreatic neuroendocrine tumors and cysts, pheochromocytomas, and cystadenomas of the reproductive adnexal organs. Despite their benign pathology, hemangioblastomas and ELSTs are a frequent cause of morbidity and mortality in patients with VHL. Recent molecular biologic investigations into these VHL-associated central nervous system lesions provide new insight into their origin and development. Emerging data from serial imaging and clinical surveillance protocols provide insight into the natural history of these lesions. Because of the dissimilar pathobiology and clinical course between hemangioblastomas and ELSTs, the optimal management strategies for these neurologic manifestations of VHL are very different.
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A, At the time of the patient's evaluation at the National Institutes of Health (NIH), sagittal, postcontrast, T1-weighted magnetic resonance imaging (MRI) of the brainstem revealed an enhancing hemangioblastoma of the obex in the medulla and edema (hypointensity in brainstem adjacent to the tumor). The patient was asymptomatic at the time. B, Nineteen months after the NIH evaluation, the patient presented with headaches, frequent hiccups, and swallowing difficulties. Contrast enhanced, T1-weighted MRI revealed development of a peritumoral cyst associated with the obex hemangioblastoma.
Axial, postcontrast computed tomography revealed renal cell carcinomas bilaterally (black arrowheads), renal cysts (blue arrowhead), and pancreatic cysts (yellow arrowhead).
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Serial Magnetic Resonance Imaging of a Brainstem Hemagioblastoma Demonstrating Peritumoral Cyst Formation in a Patient with von Hippel-Lindau Disease
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