Lam W W, Wang Z J, Zhao H, Berry G T, Kaplan P, Gibson J, Kaplan B S, Bilaniuk L T, Hunter J V, Haselgrove J C, Zimmermann R A
Department of Diagnostic Radiology and Organ Imaging, Prince of Wales Hospital Shatin, N.T., Chinese University of Hong Kong, China.
Neuroradiology. 1998 May;40(5):315-23. doi: 10.1007/s002340050592.
Proton MR spectra of the basal ganglia were obtained from 28 patients, 24 male and 14 female, median age 16.3 months (5 weeks to 31 years). They included 17 patients with normal MRI of the basal ganglia without metabolic disturbance (control group) and 11 patients with various metabolic diseases: one case each of high serum sodium and high serum osmolarity, cobalamin C deficiency, Leigh disease, Galloway-Mowat syndrome, Pelizaeus-Merzbacher disease, hemolytic-uremic syndrome and Wilson disease and two cases of Alagille syndrome and methylmalonic acidemia with abnormal MRI of the basal ganglia or blood or urine analysis (abnormal group). The MR spectrum was measured by using STEAM. The MR-visible water content of the region of interest was obtained. Levels of myoinositol, choline, creatine and N-acetylaspartate were measured using a semiquantitative approach, with absolute reference calibration. In the control group, there was a gradual drop of water content over the first year of life; N-acetylaspartate, creatine and myoinositol levels showed no significant change with age, in contrast to the occipital, parietal and cerebellar regions. Choline showed a gradual decrease for the first 2 years of life and then remained fairly constant. In the abnormal group the water content was not significantly different. N-Acetylaspartate was decreased in patients with high serum sodium and high serum osmolarity, cobalamin C deficiency, Leigh disease and one case of methylmalonic acidemia. Decreased creatine was also found in Leigh disease, and decreased choline in Galloway-Mowat syndrome and Wilson disease. Myoinositol was elevated in the patient with abnormally high serum sodium, and decreased in the hemolytic-uremic syndrome.
对28例患者的基底神经节进行了质子磁共振波谱分析，其中男性24例，女性14例，中位年龄16.3个月（5周至31岁）。这些患者包括17例基底神经节MRI正常且无代谢紊乱的患者（对照组）和11例患有各种代谢疾病的患者：高血清钠和高血清渗透压各1例、钴胺素C缺乏症1例、Leigh病1例、Galloway-Mowat综合征1例、佩利措伊斯-梅茨巴赫病1例、溶血尿毒综合征1例、威尔逊病1例，以及2例基底神经节MRI或血液或尿液分析异常的阿拉吉列综合征和甲基丙二酸血症（异常组）。磁共振波谱采用STEAM序列测量。获取感兴趣区域的磁共振可见水含量。采用半定量方法并进行绝对参考校准，测量肌醇、胆碱、肌酸和N-乙酰天门冬氨酸的水平。在对照组中，出生后第一年水含量逐渐下降；与枕叶、顶叶和小脑区域不同，N-乙酰天门冬氨酸、肌酸和肌醇水平随年龄无显著变化。胆碱在出生后的前2年逐渐下降，然后保持相当稳定。在异常组中，水含量无显著差异。高血清钠和高血清渗透压、钴胺素C缺乏症、Leigh病和1例甲基丙二酸血症患者的N-乙酰天门冬氨酸降低。Leigh病患者也发现肌酸降低，Galloway-Mowat综合征和威尔逊病患者胆碱降低。血清钠异常升高患者的肌醇升高，溶血尿毒综合征患者的肌醇降低。
