Firat Ahmet Kemal, Karakas Hakki Muammer, Yakinci Cengiz
Department of Radiology, Turgut Ozal Medical Center, Inonu University Medical Faculty, Malatya, Turkey.
Dev Med Child Neurol. 2006 Oct;48(10):847-50. doi: 10.1017/S0012162206001812.
Magnetic resonance spectroscopy (MRS) of a 12-year-old female patient with glutaric aciduria type II was compared with data obtained from four healthy age- and sex-matched volunteers. In the clinically active phase, conventional magnetic resonance imaging showed mild ventricular dilatation. Frontal lobe choline/creatine (Cho/Cr) ratio (1.98) was higher than the ratios reported for the comparison participants (1.64 [SD 0.21]). The N-acetylaspartate/creatine (NAA/Cr) ratio (1.95) was lower than normal limits (2.66 [SD 0.23]). After successful riboflavin treatment and dietary restriction for proteins, the NAA/Cr ratio was within the normal range (2.44) and Cho/Cr ratio was below the normal range (1.15), suggesting riboflavin-responsive multiple acyl-coA dehydrogenase deficiency. An elevated Cho/Cr ratio and decreased NAA/Cr ratio is consistent with a demyelinating process in the active phase of glutaric aciduria type II. MRS helps to monitor the progress of the disease and the efficacy of treatment by revealing changes in NAA/Cr and Cho/Cr ratios.
对一名患有II型戊二酸尿症的12岁女性患者进行了磁共振波谱（MRS）检查，并与从四名年龄和性别匹配的健康志愿者获得的数据进行了比较。在临床活动期，传统磁共振成像显示轻度脑室扩张。额叶胆碱/肌酸（Cho/Cr）比值（1.98）高于比较参与者报告的比值（1.64[标准差0.21]）。N-乙酰天门冬氨酸/肌酸（NAA/Cr）比值（1.95）低于正常范围（2.66[标准差0.23]）。在成功进行核黄素治疗和蛋白质饮食限制后，NAA/Cr比值在正常范围内（2.44），Cho/Cr比值低于正常范围（1.15），提示核黄素反应性多种酰基辅酶A脱氢酶缺乏。Cho/Cr比值升高和NAA/Cr比值降低与II型戊二酸尿症活动期的脱髓鞘过程一致。MRS通过揭示NAA/Cr和Cho/Cr比值的变化，有助于监测疾病进展和治疗效果。
