Presentation
Nystagmus. Gaze deviation. Persistent apneic events.
Patient Data
Post contrast sequences show no abnormal enhancement. There was no restricted diffusion. The orbits were within normal limits.
White matter volume is severely decreased. There is minimal myelination of the posterior or anterior limbs of the internal capsule, periventricular white matter, or optic radiations (which is normally expected to be myelinated by this age).
Coronal T1 shows severe hypoplasia of the corpus callosum.
There is minimal myelination of the posterior or anterior limbs of the internal capsule, periventricular white matter, or optic radiations (which is normally expected to be myelinated by this age).
Case Discussion
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).
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