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Imaging Features of von Hippel–Lindau Disease¹

¹ From the Department of Radiology, Guy’s and St Thomas’ Hospitals, St Thomas Street, London SE1 7EH, United Kingdom. Presented as an education exhibit at the 2006 RSNA Annual Meeting. Received March 23, 2007; revision requested April 16 and received May 29; accepted June 22. All authors have no financial relationships to disclose. Address correspondence to R.S.L. (e-mail: leung.becca{at}gmail.com).

von Hippel–Lindau (VHL) disease is a rare, autosomal dominantly inherited multisystem disorder characterized by development of a variety of benign and malignant tumors. The spectrum of clinical manifestations of the disease is broad and includes retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas. The most common causes of death in VHL disease patients are renal cell carcinoma and neurologic complications from cerebellar hemangioblastomas. The various manifestations can be demonstrated with different imaging modalities such as ultrasonography, computed tomography, magnetic resonance imaging, and nuclear medicine. Although genetic testing is available, the manifestations of the syndrome are protean; therefore, imaging plays a key role in identification of abnormalities and subsequent follow-up of lesions. It is also used for screening of asymptomatic gene carriers and their long-term surveillance. Screening is important because the lesions in VHL disease are treatable; thus, early detection allows use of more conservative therapy and may enhance the patient’s length and quality of life. A multidisciplinary team approach is important in screening for VHL disease.

© RSNA, 2008