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. 2011 Sep 9;89(3):415–423. doi: 10.1016/j.ajhg.2011.07.014

Figure 3.

Figure 3

MRI Findings in 4H Subject 9

(A) Axial T2-weighted image of the brain at the level of the pons.

(B) Axial T2-weighted image of the brain at the level of the basal ganglia.

(C) Sagittal T1-weighted image of the brain at the midline.

(D) Axial T1-weighted image of the brain at the level of the pons.

(E) Axial T1-weighted image of the brain at the level of the basal ganglia.

As previously described,15 this case demonstrates the features characteristic of 4H visible through neuroimaging: cerebellar white matter mild T2 hyperintensity with relative T2 darkness of the dentate nucleus (A, small white arrow); T2 hypointensity of the optic radiations and lateral nucleus of the thalamus (B, small black arrows); cerebellar atrophy (C, large white arrow); and T1 isointensity to hyperintensity of the white matter (D and E), consistent with a radiologic diagnosis of hypomyelination.