From the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center
From the Department of Radiology (U.R., T.J.R., A.H., A.T., M.H.B., T.A.), HUS Medical Imaging Center.
AJNR Am J Neuroradiol. 2018 Jul;39(7):1349-1354. doi: 10.3174/ajnr.A5687. Epub 2018 May 31.
Juvenile neuronal ceroid lipofuscinosis is a progressive neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision, seizures, and loss of cognitive and motor functions leading to premature death. Previous MR imaging studies have reported cerebral and cerebellar atrophy, progressive hippocampal atrophy, thalamic signal intensity alterations, and decreased white matter volume in the corona radiata. However, conventional MR imaging findings are usually normal at younger than 10 years of age. The purpose of our study was to investigate whether diffusion MR imaging could reveal changes in white matter microstructure already present at a younger age.
We investigated global and local white matter abnormalities in 14 children with juvenile neuronal ceroid lipofuscinosis (mean age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean age, 11.2 ± 2.3 years; 7 boys). Twelve patients underwent follow-up MR imaging after 2 years (mean age, 11.4 ± 3.2 years; 8 boys). We performed a global analysis using 2 approaches: white matter tract skeleton and constrained spherical deconvolution-based whole-brain tractography. Then, we investigated local microstructural abnormalities using Tract-Based Spatial Statistics.
We found globally decreased anisotropy ( = .000001) and increased diffusivity ( = .001) in patients with juvenile neuronal ceroid lipofuscinosis. In addition, we found widespread increased diffusivity and decreased anisotropy in, for example, the corona radiata ( < .001) and posterior thalamic radiation ( < .001). However, we found no differences between the first and second acquisitions.
The patients with juvenile neuronal ceroid lipofuscinosis exhibited global and local abnormalities in white matter microstructure. Future studies could apply more specific microstructural models and study whether these abnormalities are already present at a younger age.
青少年神经元蜡样脂褐质沉积症是一种儿童进行性神经退行性溶酶体贮积病。它表现为视力丧失、癫痫发作和认知及运动功能丧失，导致早逝。先前的磁共振成像研究报告了大脑和小脑萎缩、进行性海马萎缩、丘脑信号强度改变以及放射冠的白质体积减少。然而，在 10 岁以下，常规磁共振成像的发现通常是正常的。我们研究的目的是探讨弥散磁共振成像是否能显示出在更年轻的时候就已经存在的白质微观结构的变化。
我们研究了 14 名青少年神经元蜡样脂褐质沉积症患儿（平均年龄 9.6 ± 3.4 岁；10 名男性）和 14 名对照者（平均年龄 11.2 ± 2.3 岁；7 名男性）的整体和局部白质异常。12 名患者在 2 年后接受了随访磁共振成像（平均年龄 11.4 ± 3.2 岁；8 名男性）。我们使用两种方法进行了全局分析：白质束骨架和基于约束球分解的全脑束追踪。然后，我们使用基于束的空间统计学方法研究了局部微观结构异常。
我们发现青少年神经元蜡样脂褐质沉积症患者的各向异性（ =.000001）普遍降低，弥散度（ =.001）增加。此外，我们发现广泛的弥散度增加和各向异性降低，例如在放射冠（ <.001）和后丘脑辐射（ <.001）。然而，我们没有发现第一次和第二次采集之间的差异。
青少年神经元蜡样脂褐质沉积症患者的白质微观结构表现出整体和局部异常。未来的研究可以应用更具体的微观结构模型，并研究这些异常是否在更年轻的时候就已经存在。
