AJDRAJNR - American Journal of Neuroradiology

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FIG 3. MR images in patient 5, who had severe clinical disease.

A, Axial T2W image (3000/120), patient aged 11 months. At 11 months, little evidence of myelin deposition is present. The thalamus has a normal size. The globus pallidus (arrow) is depicted at a slightly higher level than on the other images and is seemingly smaller, but it has a normal size on a lower section (not shown). No visible putamen is present, and the head of the caudate nucleus is small.

B, Sagittal T1W image (570/14), patient aged 11 months. The cerebellar vermis is slightly reduced in size.

C, Axial T2W image (3000/120), patient aged 11 years. At 11 years, the cerebral white matter still contains little myelin. The volume of the white matter has decreased considerably. The head of the caudate nucleus is no longer visible, whereas the globus pallidus (arrow) and thalamus appear to be of normal size.

D, Sagittal T1W image (570/14), patient aged 11 years. The cerebellar atrophy has progressed.





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