Imamura A, Miyajima H, Ito R, Orii K O
Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan.
Neuropediatrics. 2008 Oct;39(5):259-63. doi: 10.1055/s-0029-1202285. Epub 2009 Mar 17.
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 (1)H-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 (mI)/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 (1)H-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease.
本文描述了一对患有早发性泰-萨克斯病的4岁单卵双胞胎女性。这对姐妹表现出相似的缓慢进展性临床症状和病情恶化，但妹妹还出现了右腿难治性肌阵挛。对这对双胞胎均进行了脑部的系列磁共振成像（MR）和氢质子磁共振波谱（¹H-MR光谱）检查。MR图像显示双侧白质在T₂加权图像上呈高信号，然而在任何阶段基底节和丘脑均无信号变化。在白质病变和纹状体中，N-乙酰天门冬氨酸（NAA）/肌酸（Cr）的比值均降低，在¹H-MR光谱检查中，受损白质中肌醇（mI）/Cr的比值升高。在妹妹的左侧基底节中明显显示出乳酸峰升高；然而在姐姐的脑部病变中未显示。¹H-MR光谱检查中代谢物的变化与每个双胞胎各自的临床特征密切相关。通过¹H-MR光谱进行随访检查有助于评估泰-萨克斯病患儿的神经元变化。
