Figure 2. MRI progression in patient 1.

The diffuse hypomyelinating aspect of the white matter characterized by an isosignal T1, hypersignal T2, and flair of the white matter in comparison with the gray matter did not change during the 8 years of evolution (MRI performed at age 2, 4, and 10 years) despite the clinical progression of the disease observed after age 4 years. In contrast, a progressive atrophy is observed in the supratentorial and subtentorial structures between ages 4 and 10 years: deeper cortical sulci, increased subarachnoid spaces, frontal ventricular dilatation and white matter atrophy, corpus callosum atrophy (18% loss in the anterior part and 35% in the posterior part), and cerebellar atrophy (20% loss of the vermis and cerebellar hemispheres).