Pelizaeus Merzbacher disease
Nystagmus. Gaze deviation. Persistent apneic events.
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Post contrast sequences show no abnormal enhancement. There was no restricted diffusion. The orbits were within normal limits.
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).