An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.
22q11
DiGeorge syndrome
Spastic paraparesis
Journal
Case reports in neurology
ISSN: 1662-680X
Titre abrégé: Case Rep Neurol
Pays: Switzerland
ID NLM: 101517693
Informations de publication
Date de publication:
Historique:
received:
01
04
2020
accepted:
10
04
2020
entrez:
30
6
2020
pubmed:
1
7
2020
medline:
1
7
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32595478
doi: 10.1159/000507954
pii: crn-0012-0165
pmc: PMC7315177
doi:
Types de publication
Case Reports
Langues
eng
Pagination
165-168Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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