0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Grand Rounds | Clinician's Corner

Neurologic Manifestations of von Hippel-Lindau Disease

John A. Butman, MD, PhD; W. Marston Linehan, MD; Russell R. Lonser, MD
JAMA. 2008;300(11):1334-1342. doi:10.1001/jama.300.11.1334.
Text Size: A A A
Published online

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.

Figures in this Article

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Figures

Place holder to copy figure label and caption
Figure 1. Magnetic Resonance Imaging of Brainstem Hemangioblastoma Demonstrating Peritumoral Cyst Formation
Graphic Jump Location

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.

Place holder to copy figure label and caption
Figure 2. Computed Tomography of the Abdomen
Graphic Jump Location

Axial, postcontrast computed tomography revealed renal cell carcinomas bilaterally (black arrowheads), renal cysts (blue arrowhead), and pancreatic cysts (yellow arrowhead).

Place holder to copy figure label and caption
Figure 3. Progression of Hemangioblastoma-Associated Peritumoral Edema and Cyst Formation
Graphic Jump Location

Tables

References

Letters

CME


You need to register in order to view this quiz.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Web of Science® Times Cited: 27

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles
Jobs
brightcove.createExperiences();