A Novel Treatment Approach in a Case of Mosaic Neurofibromatosis Type 2

Update Item Information
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
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: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
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
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Aisha A. Mumtaz
Contributor Secondary Pooja Parikh, Rachid Aouchiche
Setname ehsl_novel_nam
ID 1539314
Reference URL https://collections.lib.utah.edu/ark:/87278/s6vf2746
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