Morita Hideyuki, Imamura Atsushi, Matsuo Naoki, Tatebayashi Koji, Omoya Kentaro, Takahashi Yukitoshi, Tsujino Seiichi
Department of Pediatrics, Gifu Prefectral Gifu Hospital, 4-6-1, Noishiki, Gifu 500-8717, Japan.
Brain Dev. 2006 Aug;28(7):466-9. doi: 10.1016/j.braindev.2005.12.006. Epub 2006 Feb 28.
Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse white matter with T2-weighted image and subcortical cysts in the parietal and temporal lobes and MRS showed mildly reduced N-acetylaspartate (NAA) in areas of severe T2 elongation with a long TE sequence. A peak of lactate/lipid was indicated at a chemical shift of 1.3 ppm with a short TE sequence. The peak for myo-inositol was normal in areas of severe and mild T2 elongation with short TE MRS. These findings suggest that demyelination progresses slowly in van der Knaap disease and that MRS with long and short TE is useful for the evaluation of neural metabolization associated with van der Knaap disease.
范德·克纳普病以巨脑性白质脑病和皮质下囊肿为特征，是一种罕见的、最近才明确的病症。我们在此讨论一名30岁男性的磁共振成像（MRI）和磁共振波谱（MRS）特征，该男性的MLC1基因存在S93L纯合突变。MRI显示T2加权图像上弥漫性白质高强度信号，顶叶和颞叶有皮质下囊肿，MRS显示在长TE序列的严重T2延长区域N-乙酰天门冬氨酸（NAA）轻度降低。短TE序列在化学位移1.3 ppm处显示有乳酸/脂质峰。在短TE MRS的严重和轻度T2延长区域，肌醇峰正常。这些发现表明，范德·克纳普病中的脱髓鞘进展缓慢，长TE和短TE的MRS有助于评估与范德·克纳普病相关的神经代谢。
