Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.
10.3345/kjp.2012.55.10.397
- Author:
Eun LEE
1
;
Mi Sun YUM
;
Hae Won CHOI
;
Han Wook YOO
;
Su Jeong YOU
;
Eun Hye LEE
;
Tae Sung KO
Author Information
1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. tsko@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Pelizaeus-Merzbacher disease;
Proteolipid protein;
Magnetic resonance spectroscopy
- MeSH:
Aspartic Acid;
Axons;
Brain;
Central Nervous System;
Choline;
Creatinine;
Humans;
Magnetic Resonance Imaging;
Magnetic Resonance Spectroscopy;
Magnetics;
Magnets;
Muscle Spasticity;
Myelin Sheath;
Oligodendroglia;
Pelizaeus-Merzbacher Disease
- From:Korean Journal of Pediatrics
2012;55(10):397-402
- CountryRepublic of Korea
- Language:English
-
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.
