Felber S R, Sperl W, Chemelli A, Murr C, Wendel U
Department of Magnetic Resonance, University of Innsbruck, Austria.
Ann Neurol. 1993 Apr;33(4):396-401. doi: 10.1002/ana.410330412.
Metabolic decompensation of maple syrup urine disease in a 3.5-year-old boy was monitored by means of proton magnetic resonance imaging and spectroscopy. In the acute stage, imaging showed diffuse cerebral edema. Proton spectra showed an elevation of lactate and a previously unassigned resonance at 1 ppm. This peak disappeared with normalization of branched-chain amino acids and oxoacids in the plasma and cerebrospinal fluid. In vitro spectroscopy of these metabolites at 1.5 T confirmed the chemical shift position of their methyl resonances at 1 ppm. The duration of lactate elevation correlated with the presence of brain edema and coma. These results demonstrate that magnetic resonance imaging can monitor therapeutic effects, and suggest that proton spectroscopy can detect cerebral accumulation of branched-chain amino acids and oxoacids in maple syrup urine disease.
通过质子磁共振成像和光谱法对一名3.5岁患枫糖尿症男孩的代谢失代偿情况进行了监测。在急性期，成像显示弥漫性脑水肿。质子光谱显示乳酸升高以及在1 ppm处有一个先前未确定的共振峰。随着血浆和脑脊液中支链氨基酸和氧代酸恢复正常，该峰消失。在1.5 T条件下对这些代谢物进行体外光谱分析，证实了它们甲基共振在1 ppm处的化学位移位置。乳酸升高的持续时间与脑水肿和昏迷的存在相关。这些结果表明磁共振成像可监测治疗效果，并提示质子光谱能够检测枫糖尿症中脑内支链氨基酸和氧代酸的蓄积情况。
