In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency
In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency
复制标题
钼辅因子缺乏症的体内脑质子磁共振波谱分析
DOI：
10.1007/s002470050710
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发表时间：
1999
影响因子：
2.3
通讯作者：
J. Vion
中科院分区：
文献类型：
--
作者：
A. Salvan;B. Chabrol;S. Lamoureux;S. Confort;P. Cozzone;J. Vion
摘要本文报告一个20天大的婴儿，患有钼辅因子缺乏症，这是一种罕见的脑病。图像显示广泛的白质破坏与大腔。在顶枕区获得的短回波时间MR频谱的特征是信号的整体损失和乳酸盐的积累。未检测到与疾病病理生理学相关的其他信号。在该患者中观察到的脑代谢异常可能反映了白色物质的破坏和大空洞的存在。
Abstract A 20-day-old infant with molybdenum cofactor deficiency, a rare encephalopathy, was investigated using cerebral MRI and proton MR spectroscopy. Images demonstrated extensive white-matter destruction with large cavities. The short-echo-time MR spectrum acquired in the parieto-occipital area was characterised by global loss of signal and accumulation of lactate. No additional signal in relation to the pathophysiology of the disease was detected. The brain metabolic abnormalities observed in this patient may reflect destruction of white matter and the presence of large cavities.