Poretti Andrea, Meoded Avner, Fatemi Ali
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Moser Center for Leukodystrophies, Kennedy Krieger Institute, Baltimore, Maryland.
J Neurosci Res. 2016 Nov;94(11):1108-15. doi: 10.1002/jnr.23769.
Krabbe's disease is a rare autosomal recessive lysosomal disorder resulting from deficiency of β-galactocerebrosidase that affects primarily cerebral white matter and peripheral nerves. Conventional magnetic resonance imaging (MRI) is sensitive to changes in white matter myelination, but its assessment is based purely on qualitative, visual inspection, and it is subject to interobserver variability and open to reader bias. Diffusion tensor imaging (DTI) is an advanced MRI technique that provides quantitative information about the microscopic structural organization of the white matter and changes in cell density and myelination, and it is a suitable MRI tool for studying Krabbe's disease. This Review discusses the available studies on the application of quantitative DTI analysis to assess white matter changes in patients with Krabbe's disease. Quantitative analysis of DTI scalars, especially radial diffusivity and fractional anisotropy, has been shown to be a sensitive in vivo biomarker of white matter microstructural damage in Krabbe's disease, to detect early white matter injury in asymptomatic neonates with Krabbe's disease, to predict motor and cognitive functions after hematopoietic stem cell transplantation (HSCT), and to serve as a measurement for monitoring effects of HSCT on white matter development in Krabbe's disease. © 2016 Wiley Periodicals, Inc.
克拉伯病是一种罕见的常染色体隐性溶酶体疾病，由β-半乳糖脑苷脂酶缺乏引起，主要影响脑白质和周围神经。传统的磁共振成像（MRI）对白质髓鞘形成的变化敏感，但其评估完全基于定性的视觉检查，存在观察者间差异且易受读者偏差影响。扩散张量成像（DTI）是一种先进的MRI技术，可提供有关白质微观结构组织以及细胞密度和髓鞘形成变化的定量信息，是研究克拉伯病的合适MRI工具。本综述讨论了关于应用定量DTI分析评估克拉伯病患者白质变化的现有研究。DTI标量的定量分析，尤其是径向扩散率和分数各向异性，已被证明是克拉伯病白质微观结构损伤的敏感体内生物标志物，可检测克拉伯病无症状新生儿的早期白质损伤，预测造血干细胞移植（HSCT）后的运动和认知功能，并作为监测HSCT对克拉伯病白质发育影响的指标。© 2016威利期刊公司。
