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Korean J Pediatr 2012 October;55(10) :397-402.
Published online 2012 October 15.        doi:https://doi.org/10.3345/kjp.2012.55.10.397
Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease:metabolic abnormalities as diagnostic tools
Eun Lee (Lee E)1, Mi-Sun Yum (Yum MS)1, Hae-Won Choi (Choi HW)1, Han-Wook Yoo (Yoo HW)1,2, Su Jeong You (You SJ)3, Eun-Hye Lee (Lee EH)4, Tae-Sung Ko (Ko TS)1
1Department of Pediatrics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Seoul, Korea
1,2Department of Medical Genetics Clinic and Laboratory, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Seoul,
3Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea
4Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea
Corresponding Author: Tae-Sung Ko ,Tel: +82-2-3010-3390, Fax: +82-2-473-3725, Email: tsko@amc.seoul.kr
Copyright © 2012 by The Korean Pediatric Society
ABSTRACT
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.
Keywords: Pelizaeus-Merzbacher disease | Proteolipid protein | Magnetic resonance spectroscopy
 
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