MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation
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DOI：
10.1007/s00234-003-0955-7
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发表时间：
2003-06-01
期刊：
影响因子：
2.8
通讯作者：
Kaye, EM
中科院分区：
文献类型：
--
作者：
Jan, W;Zimmerman, RA;Kaye, EM
枫糖尿病是一种先天性氨基酸代谢异常，影响脑组织，如不治疗可导致损伤或死亡。影像学研究显示，急性代谢失代偿期出现可逆性脑水肿。本文的目的是描述弥散加权成像（DWI）和光谱的结果在代谢失代偿，并评估这些结果的价值，在预测患者的结果。6例诊断为MSUD的患者在急性代谢失代偿期接受了常规MR成像和DWI。在6名患者中的4名中进行了长TE光谱分析。在临床和代谢恢复后进行随访检查。DWI显示在脑干、基底节、丘脑、小脑和脑室周围白色物质和大脑皮层中质子扩散明显受限，与细胞毒性或髓鞘内水肿相一致。这伴随着在0.9 ppm处存在异常支链氨基酸（BCAA）和支链α-酮酸（BCKA）峰以及所有4名患者质子光谱上乳酸盐升高。所有6例患者的变化均在治疗后逆转，无体积损失或持续性组织损伤的证据。DWI上水扩散受限证明存在细胞毒性或髓鞘内水肿，光谱学上存在乳酸盐，可能意味着即将发生细胞死亡。然而，在MSUD代谢失代偿的背景下，似乎细胞渗透压摩尔浓度和代谢的变化可以在代谢校正后完全逆转。
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which affects the brain tissue resulting in impairment or death if untreated. Imaging studies have shown reversible brain edema during acute metabolic decompensation. The purpose of this paper is to describe the diffusion-weighted imaging (DWI) and spectroscopy findings during metabolic decompensation and to assess the value of these findings in the prediction of patient outcome. Six patients with the diagnosis of MSUD underwent conventional MR imaging with DWI during acute presentation with metabolic decompensation. Spectroscopy with long TE was performed in four of the six patients. Follow-up examinations were performed after clinical and metabolic recovery. DWI demonstrated marked restriction of proton diffusion compatible with cytotoxic or intramyelinic sheath edema in the brainstem, basal ganglia, thalami, cerebellar and periventricular white matter and the cerebral cortex. This was accompanied by the presence of an abnormal branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA) peak at 0.9 ppm as well as elevated lactate on proton spectroscopy in all four patients. The changes in all six patients were reversed with treatment without evidence of volume loss or persistent tissue damage. The presence of cytotoxic or intramyelinic edema as evidenced by restricted water diffusion on DWI, with the presence of lactate on spectroscopy, could imply imminent cell death. However, in the context of metabolic decompensation in MSUD, it appears that changes in cell osmolarity and metabolism can reverse completely after metabolic correction.