Molybdenum cofactor deficiency: Neuroimaging findings.
Molybdenum cofactor deficiency: Neuroimaging findings.
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DOI：
10.1016/j.radcr.2018.02.025
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发表时间：
2018-06
影响因子：
--
通讯作者：
Özbakır B
中科院分区：
文献类型：
--
作者：
Durmaz MS;Özbakır B
钼辅因子缺乏症是一种极为罕见且致命的代谢紊乱，在缺氧缺血性脑病的鉴别诊断中应予以考虑。磁共振成像的结果是有用的诊断。短回波时间磁共振频谱的特征是信号和脂质和乳酸峰的总损失。在这种情况下，传统的磁共振成像和磁共振波谱检查结果，这种极其罕见的疾病，其病理生理学是未知的。
Molybdenum cofactor deficiency is an extremely rare and fatal metabolic disorder that should be considered in the differential diagnosis of hypoxic-ischemic encephalopathy. Magnetic resonance imaging findings are useful in diagnosis. The short-echo-time magnetic resonance spectrum was characterized by a total loss of signal and lipid and lactate peaks. In this case, conventional magnetic resonance imaging and magnetic resonance spectroscopy findings of this extremely rare disease whose pathophysiology was not known were presented.