Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.

ABSTRACT:

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.

Methods

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.

Results

We included 104 brain MRIs from patients with

SUBMITTER: Schoenmakers DH 

PROVIDER: S-EPMC9735365 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature