钼辅因子缺乏症 A 型：磁共振成像的产前监测。
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.
机构信息
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
Division of Radiology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
出版信息
Eur J Paediatr Neurol. 2018 May;22(3):536-540. doi: 10.1016/j.ejpn.2017.11.006. Epub 2017 Nov 28.
Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. Prenatal MRI can be used for monitoring in MoCD-A to guide decision-making in timing of delivery.
钼辅因子缺乏症 A 型（MoCD-A）是一种先天性代谢缺陷病，出生后不久即出现严重的癫痫发作。最近，实验性替代治疗使用环吡啶核苷酸单磷酸（cPMP）已成为可能。由于产前数据稀缺，我们报告了两例 MoCD-A 病例的产前磁共振成像（MRI）数据，这些病例显示出可能的早期脑损伤的迹象。产前 MRI 可用于 MoCD-A 的监测，以指导分娩时机的决策。
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