Durmaz Mehmet Sedat, Özbakır Bora
Department of Radiology, Teaching and Research Hospital, Konya Health Sciences University, Necip Fazıl Mahallesi, Fatih Cad. No: 4/1, Meram, Konya, 42090, Turkey.
Gynecology-Obstetrics and Pediatrics Hospital, Department of Radiology, Isparta, Turkey.
Radiol Case Rep. 2018 Mar 22;13(3):592-595. doi: 10.1016/j.radcr.2018.02.025. eCollection 2018 Jun.
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.
钼辅因子缺乏症是一种极其罕见且致命的代谢紊乱疾病，在缺氧缺血性脑病的鉴别诊断中应予以考虑。磁共振成像结果对诊断很有帮助。短回波时间磁共振波谱的特征是信号完全消失以及脂质和乳酸峰消失。本文报道了这种病理生理学尚不明确的极其罕见疾病的传统磁共振成像和磁共振波谱结果。
