Engelbrecht V, Rassek M, Gärtner J, Kahn T, Mödder U
Institut für Diagnostische Radiologie, Heinrich-Heine-Universität Düsseldorf.
Rofo. 1995 Sep;163(3):238-44. doi: 10.1055/s-2007-1015980.
We present the findings of magnetic resonance imaging (MRI) and localised 1H magnetic resonance spectroscopy (MRS) in two brothers with Canavan's disease, a rare autosomal recessive leukodystrophy. Urine specimens of one child were evaluated by MRS. All examinations were performed in the same whole body 1.5 T superconducting magnet. MRI revealed the typical pattern of leukodystrophy including a more severe demyelination in the older child. The younger brother showed additional high signal lesions in the globi pallidi on T2-weighted images. MRS of the brain had an elevated ratio of N-acetyl-aspartate (NAA)/phosphocreatin + creatin (Cr) while the ratio of Cholin/Cr was reduced. in urine spectroscopy the concentration of NAA was markedly increased. The ratio of NAA/creatin + creatinin was 880 +/- 10% mmol/mol (normal: 5-21 mmol/mol). Diagnosis of Canavan's disease was supported by gas chromatographic urine examination with an 80-100 fold elevation of NAA concentration. Hence, the diagnosis of Canavan's disease could be established by increased ratio of NAA/Cr and decreased ratio of Cho/Cr relation in brain spectroscopy and high NAA concentration in urine spectroscopy.
我们报告了两例患有卡纳万病（一种罕见的常染色体隐性白质营养不良症）的兄弟的磁共振成像（MRI）和局部¹H磁共振波谱（MRS）检查结果。对其中一名儿童的尿液标本进行了MRS评估。所有检查均在同一台全身1.5T超导磁体上进行。MRI显示出典型的白质营养不良模式，其中年龄较大的儿童脱髓鞘更为严重。较年幼的弟弟在T2加权图像上的苍白球显示出额外的高信号病变。脑部MRS显示N-乙酰天门冬氨酸（NAA）/磷酸肌酸+肌酸（Cr）的比值升高，而胆碱/Cr的比值降低。在尿液波谱分析中，NAA的浓度显著增加。NAA/肌酸+肌酐的比值为880±10% mmol/mol（正常范围：5-21 mmol/mol）。气相色谱尿液检查显示NAA浓度升高80-100倍，支持了卡纳万病的诊断。因此，通过脑部波谱分析中NAA/Cr比值升高和Cho/Cr比值降低以及尿液波谱分析中NAA浓度升高，可以确诊卡纳万病。
