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

<div>Sagittal MRI view of the brain at the age of 17 showing diffuse increased T2 signal in the subcortical and periventricular white matter demonstrating diffuse leukodystrophy. GE sagittal T2 CUBE image performed on a 3T MR GE scanner with TR: 3000, TE: 69.1.</div>

Case Reports in Genetics

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Figure 3

Figure 3: Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene 