Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease.
Diagnosis
Fabry disease
Interrater reliability
Magnetic resonance imaging
Multiple sclerosis
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
05 02 2022
05 02 2022
Historique:
received:
20
12
2021
accepted:
21
01
2022
entrez:
6
2
2022
pubmed:
7
2
2022
medline:
12
3
2022
Statut:
epublish
Résumé
White matter lesions (WML) in multiple sclerosis (MS) differ from vascular WML caused by Fabry disease (FD). However, in atypical cases the discrimination can be difficult and may vary between individual raters. The aim of this study was to evaluate interrater reliability of WML differentiation between MS and FD patients. Brain MRI scans of 21 patients with genetically confirmed FD were compared to 21 matched patients with MS. Pseudonymized axial FLAIR sequences were assessed by 6 blinded raters and attributed to either the MS or the FD group to investigate interrater reliability. Additionally, localization of WML was compared between the two groups. The median age of patients was 46 years (IQR 35-58). Interrater reliability was moderate with a Fleiss' Kappa of 0.45 (95%CI 0.3-0.59). Overall, 85% of all ratings in the MS group and 75% in the FD group were correct. However, only 38% of patients with MS and 33% of patients with FD were correctly identified by all 6 raters. WML involving the corpus callosum (p < 0.001) as well as juxtacortical (p < 0.001) and infratentorial lesions (p = 0.03) were more frequently observed in MS patients. Interrater reliability regarding visual differentiation of WML in MS from vascular WML in FD on standard axial FLAIR images alone is only moderate, despite the distinctive features of lesions in each group.
Identifiants
pubmed: 35123534
doi: 10.1186/s13023-022-02187-y
pii: 10.1186/s13023-022-02187-y
pmc: PMC8817613
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
37Informations de copyright
© 2022. The Author(s).
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