Pelizaeus–Merzbacher disease (PMD): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pelizaeus–Merzbacher disease (PMD): management. Hypomyelination pattern. Fully referenced neurology checklist.
Magnetic resonance imaging (MRI) brain: features
- Hypomyelination pattern
- Diffuse or patchy tigroid T2 hyperintensity pattern
- Diffuse, confluent changes: in the connatal form
- Cerebral atrophy
Other investigations
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Investigational treatment
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References
- Mittal A, Maini B, Sharma PD, Aggarwal A. Pelizaeus-Merzbacher disease in siblings. J Pediatr Neurosci 2010; 5:167-169.
- Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Genetic disorders affecting white matter in the pediatric age. Am J Med Genet B Neuropsychiatr Genet 2004; 129B:85-93.
- Stumpf SK, Berghoff SA, Trevisiol A, et al. Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease. Acta Neuropathol 2019; 138:147-161.
