Samuel Groeschel1, 2, Christine i Dali3, Philipp Clas2, Christiane Kehrer1, Marko Wilke1, 2, Ingeborg Krgeloh-Mann1
1Department of Pediatric Neurology & Developmental Medicine, University Children's Hospital, Tuebingen, Germany; 2Experimental Pediatric Neuroimaging, University Children's Hospital, Tuebingen, Germany; 3Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
Metachromatic Leukodystrophy (MLD) is a metabolic disorder leading to demyelination and neurological deterioration. We assessed cerebral gray and white matter volume as well as the volume of demyelination in relation to disease course, using a multispectral MRI segmentation approach (T1w and T2w). Eighteen patients with late-infantile MLD and 48 typically developing children of the same age range (20-59months) were analyzed. Interestingly, in MLD patients GM volume was found to be reduced already early during disease course, when their WM volume did not differ. Demyelination load increased with disease duration and motor deterioration. This may serve as reference for therapeutic intervention.