FIG 2. Patient 1: early-onset GLD.

A–D, Axial T2-weighted images (4000/100/2 [TR/TE/excitations]) at 4 months of age show increased signal intensity in the dentate nuclei (curved arrows in A, target lesions), in cerebellar white matter (arrowheads in A), the brain stem pyramidal tract (arrows in B), the pyramidal tract within the posterior limb of the internal capsule (arrows in C), and the pyramidal tract in the corona radiata (arrows in D), resulting in a GLD MR severity score of 5.

E–H, Axial T2-weighted images (3000/80/1) at 10 months of age show stable dentate nuclear involvement (curved arrows in E), progressive cerebellar white matter (arrowheads in E), and progressive pyramidal tract involvement (arrows in F, G, and H). The development of moderate global atrophy, as evidenced by a widened third ventricle width (8 mm), widened frontal horn ratio (41%), and widened subarachnoid spaces, results in an MR severity score of 7.