Figure 5.

Eleven-month-old boy with Sandhoff disease (GM2 gangliosidosis), presenting with global developmental delay, hypotonia, and hyperreflexia. Axial T2WI (a) show abnormal hypointensity in the lateral thalami (arrows) typical of a lysosomal storage disorder, and hyperintensity consistent with edema in the bilateral basal ganglia and cerebral white matter. (b) SV-MRS over the basal ganglia shows reduced NAA and elevated mI—consistent with neuronal–axonal damage. Glucose (gluc peaks at 3.4, 3.8 ppm) is prominent, suggesting altered glucose (energy) metabolism.