Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease

Kennedy Krieger Institute, Baltimore, MD, USA.
American Journal of Neuroradiology (Impact Factor: 3.59). 10/2003; 24(8):1683-9.
Source: PubMed


Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.
Three boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2-7 years) underwent MR and MRS imaging. All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure-posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.
Diffuse or focal reductions in N-acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.
Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles.

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Available from: Ali Fatemi, Feb 05, 2014
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    • "In addition, atrophy and decreased white matter volume are often apparent4). The common pathological characteristic of PMD is the lack of myelin sheaths in large areas of white matter, more prominent in the lateral periventricular regions than in the subcortical regions4). "
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    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.
    Korean Journal of Pediatrics 10/2012; 55(10):397-402. DOI:10.3345/kjp.2012.55.10.397
  • Radiología 49(1):4; discussion 56.
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    ABSTRACT: The application of techniques based on in vivo magnetic resonance to the study of leukodystrophies is evaluated. Magnetic resonance imaging (MRI), the most important neuroimaging modality for patients with leukodystrophies, has proven invaluable for the detection of the extent and etiology of white-matter involvement, diagnosis, and monitoring of disease progression. Proton magnetic resonance spectroscopy, which can detect several brain metabolites, including those related to axonal function and myelination, can provide additional diagnostic and prognostic information and, in some cases, allows a rare insight into the biochemical pathology of leukodystrophies. The potential of other advanced magnetic resonance techniques, including diffusion tensor imaging, magnetization transfer contrast, and molecular imaging, is also discussed. In the future, anatomic and physiologic magnetic resonance techniques are expected to be integrated into a single examination that will provide a detailed characterization of white-matter diseases in children. (J Child Neurol 2004;19:559-570).
    Journal of Child Neurology 08/2004; 19(8):559-570. DOI:10.1177/088307380401900801 · 1.72 Impact Factor
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