Identifier |
20200308_nanos_posters_086 |
Title |
A Novel Treatment Approach in a Case of Mosaic Neurofibromatosis Type 2 |
Creator |
Aisha A. Mumtaz; Pooja Parikh; Rachid Aouchiche |
Affiliation |
(AAM) (RA) University of Maryland Medical Center, Baltimore, Maryland; (PP) University of Texas at Austin Dell Medical School, Austin, Texas |
Subject |
Tumors; Orbit/Ocular Pathology; Orbit; Genetic Disease |
Description |
Neurofibromatosis type 2 (NF2) is a genetic syndrome caused by mutations in the NF2 gene resulting in tumors of the nervous system. While NF2 is commonly thought to follow an autosomal dominant inheritance pattern due to a mutation on chromosome 22 , we present a case of NF2 due to sporadic germline mosaicism. Our goal is to highlight the clinical presentation of a patient with radiological findings consistent with invasive meningioma in the setting of genetic features consistent with mosaic NF2, as well as novel treatment approaches for treatment of a complex high grade and refractory meningioma. |
Date |
2020-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6vf2746 |
Setname |
ehsl_novel_nam |
ID |
1539314 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6vf2746 |