Cross-Sectional Imaging Spectrum of von Hippel-Lindau Disease

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with germline mutations of VHL tumor suppressor gene, which is located at short arm of chromosome 3. This condition predisposes to the development of various benign and malignant tumors involving multiple organs; the common neoplasms include central nervous system hemangioblastomas (mostly cerebellar and spinal cord), retinal angiomas, endolymphatic sac tumors, renal cysts and tumors, pheochromocytomas, epididymal cystadenomas, and pancreatic cysts and tumors. Among them, hemangioblastomas and renal cell carcinoma are the most common cause of mortality. Cross-sectional imaging techniques such as ultrasound, computed tomography, and magnetic resonance imaging play a pivotal role in the initial diagnosis, assessment of treatment response, follow-up, and long-term surveillance. Additionally, imaging studies are important in screening of asymptomatic at risk individuals. Many of the lesions associated with VHL disease demonstrate characteristic imaging findings that help in timely diagnosis and guide genetic testing. Knowledge regarding crosssectional imaging features of the wide spectrum of benign and malignant neoplasms in VHL patients should afford appropriate patient management.