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Pelizaeus-Merzbacher disease: MRI changes over time

MRI T2 images demonstrating delayed progression of myelination over time in a child with clinical Pelizaeus-Merzbacher disease due to PLP1 missense mutation, most notably in the corpus callosum (star) and posterior limb of the internal capsule (triangle). (A) Eight months old with undermyelination. Note near absence of myelin in the corpus callosum (star) and posterior limb of the internal capsule (triangle). (B) MRI at 24 months with minimal progression of myelination. (C) MRI at 4 years 10 months with some progression of myelination in the corpus callosum and periventricular region. (Contributed by Dr. Margie Ream.)

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