Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

<div>Axial MRI view of the brain at the age of 17 showing bilateral diffuse symmetric increased FLAIR signal in the subcortical and periventricular white matter with diffuse atrophic changes involving the supratentorial brain. Axial FLAIR image performed on a 3T MR GE scanner with TR: 9002, TE: 124.7.</div>

Case Reports in Genetics

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Figure 2

Figure 2: Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene 