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.
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).
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 28
Customize your page view by dragging & repositioning the boxes below.
Serial Magnetic Resonance Imaging of a Brainstem Hemagioblastoma Demonstrating Peritumoral Cyst Formation in a Patient with von Hippel-Lindau Disease
More Listings atJAMACareerCenter.com >
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.