对三名患有泰-萨克斯病的儿童进行质子磁共振波谱分析。
Proton MR spectroscopy in three children with Tay-Sachs disease.
作者信息
Aydin Kubilay, Bakir Baris, Tatli Burak, Terzibasioglu Ege, Ozmen Meral
机构信息
Neuroradiology Division, Department of Radiology, Istanbul Medical School, Istanbul University, Istanbul, Turkey.
出版信息
Pediatr Radiol. 2005 Nov;35(11):1081-5. doi: 10.1007/s00247-005-1542-3. Epub 2005 Aug 4.
BACKGROUND
Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells.
OBJECTIVE
To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease.
MATERIALS AND METHODS
Three children aged 10, 20 and 21 months were examined.
RESULTS
On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio.
CONCLUSIONS
The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.
背景
泰-萨克斯病是一种遗传性代谢疾病，由中枢神经系统中GM(2)神经节苷脂的积累引起。己糖胺酶A的缺乏导致神经节苷脂在神经元、轴突和神经胶质细胞中积累。
目的
展示泰-萨克斯病患儿的头颅磁共振成像（MRI）和质子磁共振波谱（MR spectroscopy）结果。
材料与方法
对3名年龄分别为10、20和21个月的儿童进行了检查。
结果
在T2加权磁共振图像上，基底节和脑白质出现高信号改变。磁共振波谱显示肌醇/肌酸和胆碱/肌酸比值升高，N-乙酰天门冬氨酸/肌酸比值降低。
结论
波谱结果支持泰-萨克斯病神经病理过程中的脱髓鞘、胶质增生和神经元丢失。
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