Pelizaeus Merzbacher disease

Case contributed by Dr Matt A. Morgan


Nystagmus. Gaze deviation. Persistent apneic events.

Patient Data

Age: 7 months
Gender: Male

Post contrast sequences show no abnormal enhancement. There was no restricted diffusion. The orbits were within normal limits.

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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Case information

rID: 32188
Published: 18th Nov 2014
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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