An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome

DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. We report an individual in which DiGeorge...

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Autores principales: Dhoot, Roshni, Payne, Katelyn, Fink, John K., Pascuzzi, Robert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315177/
https://www.ncbi.nlm.nih.gov/pubmed/32595478
http://dx.doi.org/10.1159/000507954
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author Dhoot, Roshni
Payne, Katelyn
Fink, John K.
Pascuzzi, Robert M.
author_facet Dhoot, Roshni
Payne, Katelyn
Fink, John K.
Pascuzzi, Robert M.
author_sort Dhoot, Roshni
collection PubMed
description DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. We report an individual in which DiGeorge syndrome was associated with progressive spastic paraparesis. This report extends the clinical phenotype of DiGeorge syndrome and presents the differential diagnosis of progressive spastic paraparesis in individuals with DiGeorge syndrome which provides insight into the clinical evaluation of such individuals.
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spelling pubmed-73151772020-06-26 An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome Dhoot, Roshni Payne, Katelyn Fink, John K. Pascuzzi, Robert M. Case Rep Neurol Single Case − General Neurology DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. We report an individual in which DiGeorge syndrome was associated with progressive spastic paraparesis. This report extends the clinical phenotype of DiGeorge syndrome and presents the differential diagnosis of progressive spastic paraparesis in individuals with DiGeorge syndrome which provides insight into the clinical evaluation of such individuals. S. Karger AG 2020-06-09 /pmc/articles/PMC7315177/ /pubmed/32595478 http://dx.doi.org/10.1159/000507954 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Single Case − General Neurology
Dhoot, Roshni
Payne, Katelyn
Fink, John K.
Pascuzzi, Robert M.
An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title_full An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title_fullStr An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title_full_unstemmed An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title_short An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
title_sort unexplained case of progressive spastic paraparesis in an individual with known digeorge syndrome
topic Single Case − General Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315177/
https://www.ncbi.nlm.nih.gov/pubmed/32595478
http://dx.doi.org/10.1159/000507954
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