Identifier |
20210220_nanos_posters_008 |
Title |
Von Hippel Lindau Disease Secondary to c.491A>G Mutation Presenting With Papilledema and Bilateral Pheochromocytomas |
Creator |
Omar Solyman; Valencia Potter; Evelyn Paysse |
Affiliation |
(OS) Research Institute of Ophthalmology, Giza, Egypt; (VP) Medical Scientist Training Program, Baylor College of Medicine, Houston, TX; (EP) Texas Children's Hospital, Baylor College of Medicine, Houston, TX |
Subject |
Optic Neuropathy; Pediatric Neuro-ophthalmology |
Description |
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. |
Date |
2021-02 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2021 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2021: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6m964r0 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1671495 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6m964r0 |