Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.
Daphne H SchoenmakersShanice BeerepootIngeborg Krägeloh-MannSaskia ElgünBenjamin BenderMarjo S van der KnaapNicole I WolfSamuel GroeschelPublished in: Annals of clinical and translational neurology (2022)
Patients with late-infantile MLD may have no or only mild, nonspecific abnormalities at brain MRI, partly suggestive of 'delayed myelination', even with clear clinical symptoms. This may lead to significant diagnostic delay. Knowledge of these early MRI signs (or their absence) is important for fast diagnosis.