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T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy
Clinical Neuroradiology ( IF 2.8 ) Pub Date : 2020-11-23 , DOI: 10.1007/s00062-020-00975-2
Pascal Martin 1 , Gisela E Hagberg 2, 3 , Thomas Schultz 4 , Klaus Harzer 5 , Uwe Klose 6 , Benjamin Bender 6 , Thomas Nägele 6 , Klaus Scheffler 2, 3 , Ingeborg Krägeloh-Mann 5 , Samuel Groeschel 5
Affiliation  

Purpose

T2-weighted signal hyperintensities in white matter (WM) are a diagnostic finding in brain magnetic resonance imaging (MRI) of patients with metachromatic leukodystrophy (MLD). In our systematic investigation of the evolution of T2-hyperintensities in patients with the late-infantile form, we describe and characterize T2-pseudonormalization in the advanced stage of the natural disease course.

Methods

The volume of T2-hyperintensities was quantified in 34 MRIs of 27 children with late-infantile MLD (median age 2.25 years, range 0.5–5.2 years). In three children with the most advanced clinical course (age >4 years) and for whom the T2-pseudonormalization was the most pronounced, WM microstructure was investigated using a multimodal MRI protocol, including diffusion-weighted imaging, MR spectroscopy (MRS), myelin water fraction (MWF), magnetization transfer ratio (MTR), T1-mapping and quantitative susceptibility mapping.

Results

T2-hyperintensities in cerebral WM returned to normal in large areas of 3 patients in the advanced disease stage. Multimodal assessment of WM microstructure in areas with T2-pseudonormalization revealed highly decreased values for NAA, neurite density, isotropic water, mean and radial kurtosis, MWF and MTR, as well as increased radial diffusivity.

Conclusion

In late-infantile MLD patients, we found T2-pseudonormalization in WM tissue with highly abnormal microstructure characterizing the most advanced disease stage. Pathological hallmarks might be a loss of myelin, but also neuronal loss as well as increased tissue density due to gliosis and accumulated storage material. These results suggest that a multimodal MRI protocol using more specific microstructural parameters than T2-weighted sequences should be used when evaluating the effect of treatment trials in MLD.



中文翻译:

晚期婴儿异染性脑白质营养不良晚期的 T2 伪正常化和微观结构特征

目的

白质 (WM) 中的 T2 加权信号高信号是异染性脑白质营养不良 (MLD) 患者脑磁共振成像 (MRI) 的诊断结果。在我们对婴儿晚期患者 T2 高信号演变的系统研究中,我们描述并表征了自然病程晚期的 T2 假正常化。

方法

对 27 名晚期婴儿 MLD 儿童(中位年龄 2.25 岁,范围 0.5-5.2 岁)的 34 例 MRI 进行了 T2 高信号体积的量化。在三名临床病程最严重(年龄 > 4 岁)且 T2 伪正常化最明显的儿童中,使用多模态 MRI 方案研究了 WM 微观结构,包括扩散加权成像、MR 波谱 (MRS)、髓鞘质水分数 (MWF)、磁化传递比 (MTR)、T1 映射和定量磁化率映射。

结果

3名晚期患者的脑WM大​​面积T2高信号恢复正常。对 T2 伪标准化区域中 WM 微观结构的多模态评估显示,NAA、神经突密度、各向同性水、平均和径向峰度、MWF 和 MTR 的值大幅下降,并且径向扩散率增加。

结论

在婴儿晚期 MLD 患者中,我们发现 WM 组织中 T2 假正常化,具有高度异常的微结构,这是最晚期疾病阶段的特征。病理特征可能是髓磷脂的损失,但也可能是神经元的损失以及由于神经胶质增生和积累的储存物质导致的组织密度增加。这些结果表明,在评估 MLD 治疗试验的效果时,应使用比 T2 加权序列更具体的微观结构参数的多模态 MRI 方案。

更新日期:2020-11-23
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