JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES

Abstract

Von Hippel-Lindau disease is a rare autosomal dominantly inherited multisystem genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels. It is caused by a flaw in one gene, the VHL gene on the short arm of chromosome 3 which regulates cell growth. The spectrum of clinical manifestations of the disease is broad and includes retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts / tumors, pancreatic cysts / tumors, adrenal tumors and epididymal cystadenomas. The various manifestations can be demonstrated with imaging modalities such as ultrasonography, computed tomography, magnetic resonance imaging, and nuclear medicine. We hereby report a rare case of VHL with imaging features and approach to the diagnosis of VHL.

Keywords: Von Hippel-Lindau disease, autosomal dominant disease.