title: Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.
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.
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Eun
authors.initials: E
authors.lastname: Lee
authors.forename: Mi-Sun
authors.initials: MS
authors.lastname: Yum
authors.forename: Hae-Won
authors.initials: HW
authors.lastname: Choi
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Su Jeong
authors.initials: SJ
authors.lastname: You
authors.forename: Eun-Hye
authors.initials: EH
authors.lastname: Lee
authors.forename: Tae-Sung
authors.initials: TS
authors.lastname: Ko
keywords: Magnetic resonance spectroscopy; Pelizaeus-Merzbacher disease; Proteolipid protein