Figure 1.

Figure 1.

MRI of the brain of an individual with molecularly confirmed 4H syndrome

A. Sagittal T1-weighted image (midline) showing cerebellar atrophy (arrowhead) as well as a thin corpus callosum (arrow).

B. Axial T2-weighted image of the brain at the level of the cerebellum showing hypointensity of the dentate nuclei (arrow).

C. Axial T2-weighted image of the brain at the level of the basal ganglia showing diffuse hypomyelination as well as hypointensity of the optic radiations (dotted arrow), globi pallidi (arrowhead), and anterolateral nuclei of the thalami (arrow).

From: POLR3-Related Leukodystrophy

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