Von Hippel Lindau Disease Secondary to c.491A>G Mutation Presenting With Papilledema and Bilateral Pheochromocytomas

VHL disease is a heritable multisystem neoplasia syndrome that is associated with a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3 and is characterized by the presence of benign and malignant tumors including hemangioblastomas of the brain and retina; pheochromocytoma etc. Herein we present a case of VHL secondary to c.491A>G mutation who presented with bilateral papilledema as a manifestation of malignant hypertension secondary to bilateral pheochromocytoma. This report underscores the importance of multidisciplinary evaluation and work up of children presenting with optic disc edema.