biostudies-literatureSchoenmakers DHDFGMedicijn voor de Maatschappij/Nationale postcode Loterij1999-2009https://www.ebi.ac.uk/biostudies/studies/S-EPMC9735365biostudies-literatureUnknown9(12)<h4>Objectives</h4>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.<h4>Methods</h4>We retrospectively reviewed brain MRIs of MLD patients followed in 2 centers at the time of diagnosis regarding MLD MRI score and presence of tigroid pattern. In addition, MLD subtype, symptom status, CNS/PNS phenotype, motor/cognitive/mixed phenotype, and the presence of CNS symptoms were evaluated.<h4>Results</h4>We included 104 brain MRIs from patients with Annals of clinical and translational neurologyRecognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.PMC9735365GR4688/2-1GR4688/2‐1Bender Bvan der Knaap MSWolf NISchoenmakers DHKrageloh-Mann IBeerepoot SElgun SGroeschel SfalseRecognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.<h4>Objectives</h4>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.<h4>Methods</h4>We retrospectively reviewed brain MRIs of MLD patients followed in 2 centers at the time of diagnosis regarding MLD MRI score and presence of tigroid pattern. In addition, MLD subtype, symptom status, CNS/PNS phenotype, motor/cognitive/mixed phenotype, and the presence of CNS symptoms were evaluated.<h4>Results</h4>We included 104 brain MRIs from patients with 2022-01-01T00:00:00Z2022 Dec2026-05-28T06:00:57.084Z2024-11-13T23:24:13.859ZS-EPMC97353653633409110.1002/acn3.51692