Pelizaeus-Merzbacher Disease: A Case Report

  • Ghazaleh Jamalipour Soufi ORCID Mail Department of Radiology, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Siavash Iravani ORCID School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Pelizaeus-merzbacher disease, Central nervous system (CNS), Magnetic resonance imaging (MRI), Genetic disorder, Nervous system disease


Pelizaeus-Merzbacher Disease (PMD), as a rare genetically x-linked leukodystrophy, is a disorder of proteolipid protein expression in myelin formation. This disorder is clinically presented by neurodevelopmental delay and abnormal pendular eye movements. The responsible gene for this disorder is the proteolipid protein gene (PLP1). Our case was a oneyear- old boy referred to the radiology department for evaluating the Central Nervous System (CNS) development by brain Magnetic Resonance Imaging (MRI). Clinically, he demonstrated neuro-developmental delay symptoms. The brain MRI results indicated a diffuse lack of normal white matter myelination. This case report should be considered about the possibility of PMD in the brain MRI of patients who present a diffuse arrest of normal white matter myelination.


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How to Cite
Jamalipour Soufi G, Iravani S. Pelizaeus-Merzbacher Disease: A Case Report. CRCP. 5(2):51-54.
Case Report(s)