Open AccessPelizaeus-Merzbacher Disease: A Case Report
Author(s) -
Ghazaleh Jamalipour Soufi,
Siavash Iravani
Publication year - 2020
Publication title -
case reports in clinical practice
Language(s) - English
Resource type - Journals
eISSN - 2538-2691
pISSN - 2538-2683
DOI - 10.18502/crcp.v5i2.3841
Subject(s) - leukodystrophy , proteolipid protein 1 , white matter , myelin , magnetic resonance imaging , medicine , pathology , central nervous system , neuroscience , myelin basic protein , disease , psychology , radiology
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 possibilityof PMD in the brain MRI of patients who present a diffuse arrest of normal white matter myelination.