Ataxic gait and dysarthria in a child: pantothenate kinase-associated neurodegeneration as a diagnosis.
MRI
ataxia
brain iron accumulation
globus pallidus
pantothenate kinase-associated neurodegeneration
Journal
Oxford medical case reports
ISSN: 2053-8855
Titre abrégé: Oxf Med Case Reports
Pays: England
ID NLM: 101642070
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
08
08
2023
revised:
20
10
2023
accepted:
26
10
2023
medline:
25
12
2023
pubmed:
25
12
2023
entrez:
25
12
2023
Statut:
epublish
Résumé
Pantothenate kinase-associated neurodegeneration (or previously known as Hallervorden-Spatz syndrome) is a very rare disorder that typically manifests in a child with neurological signs such as gait difficulties, dysarthria, and hyperreflexia, associated potentially with psychiatric symptoms such as cognitive decline. It demonstrates on MRI the typical 'eye of the tiger' appearance, which is due to gliosis and accumulation of iron in the globi pallidi. Other differentials can mimic this appearance on MRI, it is therefore important to search for the involvement of other basal ganglia nuclei and the cerebral cortex, and also to consider the clinical and biological context.
Identifiants
pubmed: 38145266
doi: 10.1093/omcr/omad134
pii: omad134
pmc: PMC10735506
doi:
Types de publication
Case Reports
Langues
eng
Pagination
omad134Informations de copyright
© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
Déclaration de conflit d'intérêts
No conflicts of interest to be declared.