Serial MR Imaging and 1H-MR Spectroscopy in Monozygotic Twins with Tay-Sachs Disease
Serial MR Imaging and 1H-MR Spectroscopy in Monozygotic Twins with Tay-Sachs Disease
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DOI：
10.1055/s-0029-1202285
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发表时间：
2008-10-01
期刊：
影响因子：
1.4
通讯作者：
Oril, K. O.
中科院分区：
文献类型：
--
作者：
Imamura, A.;Miyajima, H.;Oril, K. O.
本文报告一例四岁同卵双胞胎女性早发性泰-萨二氏病。姐妹篇表现出相似的缓慢进展的临床症状和恶化，但妹妹也表现出右腿顽固性肌阵挛。对双胞胎的大脑进行了系列MR图像和H-1-MR波谱分析。MRI表现为双侧白色区T2加权像高信号，基底节区和丘脑区在任何时相均无信号改变。在磁共振波谱上，白色病变和纹状体的N-乙酰天门冬氨酸（NAA）/肌酸（Cr）比值均降低，而在受损的白色病变中，肌醇（ml）/Cr比值升高。在妹妹的左侧基底神经节中清楚地显示了乳酸峰的升高;然而，在姐姐的大脑病变中未显示。代谢物的变化与双胞胎的临床特征密切相关。H-1-MR波谱随访检查对于评估泰-萨克斯病儿童的神经元变化非常有用。
Four-year-old monozygotic female twins with early onset Tay-Sachs disease are described. The sisters showed similar slowly progressive clinical symptoms and deterioration, however the Younger sister also demonstrated intractable myoclonus in the right leg. The serial MR images and H-1-MR spectroscopy of the brain were obtained in both twins. MR images showed high intensity on T-2-weighted image in the bilateral white matter, however there were no signal changes in the basal ganglia and thalamus during any of the phases. The ratio of N-acetylaspartate (NAA)/creatine (Cr) was decreased in the both white matter lesions and the corpus striatum, and that of myoinositol (ml)/Cr was increased in the damaged white matter on MR spectroscopy. The elevation of the lactate peak was clearly demonstrated in the left basal ganglia of the younger sister; however it was not shown in cerebral lesions of the elder sister. Changes in metabolites on MR spectroscopy were closely linked to the respective clinical features of each twin. Follow-up examination by H-1-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease.