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von Hippel-Lindau disease: genetic, clinical, and imaging features Choyke PL; Glenn GM; Walther MM; Patronas NJ; Linehan WM; Zbar BRadiology 1995[Mar]; 194 (3): 629-42von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas, among other less common manifestations. Although this entity has been recognized for almost 70 years, recent developments in the genetics and imaging of VHL disease have greatly improved understanding of the disease and its natural history. This review describes the major events that led to the discovery of the gene for VHL and will familiarize the reader with recent developments in the magnetic resonance Imaging, computed tomographic, and ultrasound findings of this entity. Despite advances in the genetic understanding of this disease, imaging techniques will continue to play a major role in the diagnosis, management, and treatment of VHL.|*von Hippel-Lindau Disease/diagnosis/genetics[MESH]|Adenoma, Islet Cell[MESH]|Adrenal Gland Neoplasms[MESH]|Carcinoma, Renal Cell[MESH]|Cystadenoma, Papillary[MESH]|Diagnostic Imaging[MESH]|Female[MESH]|Hemangioblastoma[MESH]|Humans[MESH]|Kidney Diseases, Cystic[MESH]|Kidney Neoplasms[MESH]|Male[MESH]|Pancreatic Cyst[MESH]|Pancreatic Neoplasms[MESH]|Pheochromocytoma[MESH]|Retinal Diseases[MESH]|Testicular Neoplasms[MESH]|Vestibular Diseases[MESH] |
