Toft P B, Geiss-Holtorff R, Rolland M O, Pryds O, Müller-Forell W, Christensen E, Lehnert W, Lou H C, Ott D, Hennig J
John F. Kennedy Institute, Glostrup, Denmark.
Eur J Pediatr. 1993 Sep;152(9):750-3. doi: 10.1007/BF01953994.
We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the prominent leucodystrophy previously reported in CD, but there was a hyperintense signal from the lentiform nuclei and the heads of the caudate nuclei on the T2-weighted MR images. This suggests a specific vulnerability of the corpus striatum in these patients. In the older patient, the white matter became affected at the age of 6 years. Proton magnetic resonance spectroscopy (1H-MRS) of white matter revealed a normal concentration of N-acetyl-L-aspartate (NAA) and a markedly decreased concentration of choline containing compounds (Cho) in the boy but a normal ratio of NAA to Cho in the girl. We conclude that deficient NAA catabolism affects myelin metabolism. This may present as changes in the striatum and/or as a low concentration of Cho before leucodystrophy appears on MRI.
我们报告了一名2岁男孩和一名6岁女孩患有轻度卡纳万病（CD）。皮肤成纤维细胞中天冬氨酸酰基转移酶活性缺乏。脑部磁共振成像（MRI）未显示出先前报道的CD中显著的脑白质营养不良，但在T2加权磁共振图像上，豆状核和尾状核头部有高信号。这表明这些患者的纹状体存在特定的易损性。在年龄较大的患者中，6岁时白质开始受到影响。对男孩白质进行的质子磁共振波谱（1H-MRS）显示N-乙酰-L-天冬氨酸（NAA）浓度正常，含胆碱化合物（Cho）浓度显著降低，而女孩的NAA与Cho比值正常。我们得出结论，NAA分解代谢不足会影响髓鞘代谢。这可能表现为纹状体的变化和/或在MRI上出现脑白质营养不良之前Cho浓度降低。
