Pelizaeus-Merzbacher disease is an X-linked leukodystrophy (PLP1 gene at chromosome Xq22), which presents with severe white matter volume loss and dysmyelination.

The differential includes:

• Pelizaeus-Merzbacher like disease (mutations of GJA12 at 1q41-q42 or MCT8 at Xq13.2)
• 18q- deletion (18q22.3 q23)
• Sialuria also known as Salla disease (SLC17A5 gene at 6q14-q15).