14800-DvRappard

53 Slowly progressive psychiatric symptoms: think metachromatic leukodystrophy 3 parents noticed that her 2 years younger sister outran her in tasks (both cognitive as daily living such as getting dressed). An IQ drop from 70 to 55 (WISC-III) led to a brain MRI suggestive for MLD (Figure 1B). At age 13, diagnosis was confirmed biochemically and genetically. Although neurological examination was without major abnormalities, cognitive function had declined up to a point (IQ 52) where HCT was judged to be no longer beneficial. Now, 1.5 year after diagnosis, motor function is starting to decline. She can still walk independently, but drags both feet, and fine motor movements are increasingly difficult for her. Her tics are progressive, and cognitive decline continues. Figure 1 : Axial T2-weighted and sagittal T1-weighted MR images of (A) a healthy adolescent control, and MLD-60 (B) and MLD-61 (C), both with late juvenile onset. (B) shows white matter abnormalities with frontal predominance and extensive periventricular white matter abnormalities. In (C) the typical radial oriented striped pattern of low signal intensity throughout the diffuse high signal intensity on T2-weighted images is shown, and involvement and atrophy of the corpus callosum. Patient 3 (MLD-61) had typical milestones and school career, but started to deteriorate, initially cognitively, at age 13. Within a period of 2 years she dropped from A level schooling to vocational level. As the cognitive deterioration developed soon after a