Figure 1. . MRI in a male age 36 months with molecularly confirmed PMLD1.

Figure 1.

MRI in a male age 36 months with molecularly confirmed PMLD1. Note the diffuse T2-weighted hyperintensity (A and B) and diffuseT1 mild hyperintensity (C and D) consistent with hypomyelination. Involvement of pontine structures is seen in A (axial view) as T2-weighted hyperintensity (arrow) and C (sagittal view) as T1-weighted hypointensity (arrow). No cerebellar atrophy (A and C) and no abnormalities of the basal ganglia (B and D) – as may be observed in other hypomyelinating conditions – are seen.

From: Pelizaeus-Merzbacher-Like Disease 1

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