Article
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.
Annals of clinical and translational neurology - 1 Dec 2022
Schoenmakers Daphne H, Beerepoot Shanice, Krägeloh-Mann Ingeborg, Elgün Saskia, Bender Benjamin, van der Knaap Marjo S, Wolf Nicole I, Groeschel Samuel
Abstract excerpt
OBJECTIVES: Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre-symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis. This study aims to describe the characteristics of MRI WM abnormalities at diagnosis, related to clinical presentation....
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