Pelizaeus–Merzbacher disease (PMD): management
Evidence-based neurology checklist on pelizaeus–merzbacher disease (pmd): management: 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…
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
Investigational treatment
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.
