Von-Hippel Lindau’s disease: a case study

Abstract

Von Hippel-Lindau disease is an autosomal dominant neoplasia syndrome that results from a germline mutation in the VHL gene. Germline mutations in the VHL gene lead to the development of several benign or malignant tumours, and cysts in many organ systems. Affected individuals might develop CNS lesions including cerebellar, spinal cord, brainstem, nerve root, and supratentorial haemangioblastomas, as well as retinal haemangioblastomas and endolymphatic sac tumours.