Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study
Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study
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DOI：
10.2169/internalmedicine.53.0863
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发表时间：
2014-01-01
影响因子：
1.2
通讯作者：
Ikeda, Shu-ichi
中科院分区：
文献类型：
--
作者：
Kinoshita, Michiaki;Kondo, Yasufumi;Ikeda, Shu-ichi
目的 伴有神经轴突球样变的遗传性弥漫性白质脑病（HDLS）是一种成年发病的白质疾病，临床上表现为认知、精神和运动功能障碍。一些尸检报告表明，胼胝体（CC）这一最大的白质束在HDLS患者中受到严重影响。本研究的目的是对HDLS患者的胼胝体萎缩（CCA）进行定量评估。
方法 我们评估了6例经基因确诊的HDLS患者（HDLS组）的CCA，并与20例血管性痴呆患者（VaD组）以及24例年龄匹配的无器质性中枢神经系统（CNS）疾病患者（非CNS组）进行比较。利用正中矢状位磁共振图像，获取胼胝体的5项测量值：嘴部（aa'）、体部（bb'）和压部（cc'）的宽度，前后长度（ab）以及最大高度（cd）。然后，计算胼胝体指数（CCI）为(aa' + bb' + cc')/ab。
结果 所有HDLS患者在初次磁共振成像扫描时，胼胝体和额顶叶均有白质病变。与VaD组和年龄匹配的非CNS组相比，HDLS组的CCI显著降低（与VaD组比较，p < 0.01；与非CNS组比较，p < 0.01）。
结论 本研究表明，在发病后6 - 36个月进行的初次磁共振成像扫描中，所有HDLS患者的胼胝体均有显著萎缩。我们提出，在T2图像上CCA早期出现，且常伴有膝部和/或压部高信号，是HDLS的一个重要诊断线索。
Objective Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is an adult-onset white matter disease that presents clinically with cognitive, mental and motor dysfunction. Several autopsy reports have indicated that the corpus callosum (CC), the largest bundle of white matter, is severely affected in patients with HDLS. The aim of this study was to evaluate corpus callosum atrophy (CCA) quantitatively in HDLS patients.Methods We assessed CCA in six genetically-proven HDLS patients (HDLS group), in comparison with that observed in 20 patients with vascular dementia (VaD group) and 24 age-matched patients without organic central nervous system (CNS) disease (non-CNS group). Using midsagittal MR images, five measurements of the CC were obtained: the width of the rostrum (aa'), body (bb') and splenium (cc'), the anterior to posterior length (ab) and the maximum height (cd). Next, the corpus callosum index (CCI) was calculated as (aa' + bb' + cc')/ab.Results All HDLS patients had white matter lesions in the CC and frontoparietal lobes on the initial MRI scans. Compared with that observed in the VaD and age-matched non-CNS groups, the CCI was significantly decreased in the HDLS group (with VaD group, p < 0.01; with non-CNS group, p < 0.01).Conclusion This study showed significant atrophy of the CC in all HDLS patients on the initial MRI scans obtained 6-36 months after onset. We propose that the early appearance of CCA, frequently accompanied by high-intensity in the genu and/or splenium, on T2 images is an important diagnostic clue to HDLS.