Abstract:A 44-year-old woman presented with a 15-year history of ataxic gait. Medical history disclosed global developmental delay and supravalvular aortic stenosis and persistent arterial duct. Examination showed facial dysmorphisms (dysmorphic ears, broad nose, ocular hypertelorism), dysbasia and bilateral dysmetria. Neuroimaging studies disclosed diffuse leukoencephalopathy ( Figures 1 and 2). Whole-exome sequencing was unremarkable. Microarray-based Comparative Genomic Hybridization disclosed 9p24.3 duplication, di… Show more
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