PLP1 and Pelizeaus-Merzbacher spectrum disorder: A review of literature indicates that there are currently at least 13 other cases of affected females with a genetic diagnosis of PMD.1–4 Out of the thirteen cases examined, our patient is the second only known female with deletions of PLP1 gene.1 Twelve other female cases were due to point mutations or duplications of the PLP1 gene.1–4