Nervous System Manifestations of von Hippel-Lindau Disease - Abstract
von Hippel-Lindau (VHL) disease is a highly penetrant multiple organ heritable cancer syndrome with a spectrum of benign and malignant tumors. VHL is results from a germline mutation of the VHL tumor suppressor gene (short arm of chromosome 3). VHL affects 1 in 36,000 to 39,000 livebirths as an autosomal dominant trait. Individuals harboring a mutation in VHL can develop benign and malignant tumors, both of the central nervous system (CNS) and systemically. VHL-associated lesions of the CNS include retinal and craniospinal hemangioblastomas, as well as endolymphatic sac tumors (ELSTs). While CNS hemangioblastomas (most common tumor in VHL) and ELSTs are benign tumors, they are associated with significant neurologic morbidity and mortality based on their location and multiplicity. Because of the management complexities of this disease, multidisciplinary screening and treatment, as well as a deep understanding of the natural course of the disease are needed.