Von Hippel-Lindau Syndrome: Multi-Organ Involvement Highlighting Its Diverse Clinical Spectrum in Two Adult Cases

Abstract

There is an assortment of disorders that have multisystem involvement. Von Hippel-Lindau (VHL) syndrome, a rare autosomal dominant disease, falls in that category. VHL syndrome is associated with the formation of benign and malignant tumors in the central nervous system (CNS), adrenal gland, kidney, and eyes. In this report, we present two unusual cases of VHL syndrome presenting with multisystem engagement. The first case is of a 27-year-old male exhibiting multiple manifestations, which included hemangioblastoma of the spine, pheochromocytoma, pancreatic cyst, and retinal hemangioblastoma. The second case pertains to a 25-year-old male with various presentations ranging from retinal hemangioblastoma and pancreatitis to spinal and cerebellar hemangioblastoma. These cases emphasize the value of radiologic imaging and genetic assessment early in life when the presentation of the disease is in its preliminary stage. When an individual presents with a condition characterized by unexplained multifarious organ involvement of CNS, adrenal glands, and kidneys in the span of a few years, a differential diagnosis of VHL syndrome should be considered.