Paroxysmal abnormal eye movement in early infancy is one of the initial symptoms of glucose transporter 1 deficiency syndrome (GLUT1DS). We describe four early infants with transient hypoglycorrhachia presenting with abnormal eye movements. Their symptoms disappeared after the introduction of a ketogenic diet (KD), and their development was normal. Since no variants in SLC2A1 were detected, the CSF-to-blood glucose ratios (C/B) were re-examined, and within normal range. None of the four patients displayed recurrent symptoms after withdrawal from the KD. Because long-term KD has potential adverse effects and could affect the quality of life of patients and their families, re-examination of CSF glucose during late infancy should be considered in the case of absence of the SLC2A1 pathogenic variant.

中文翻译：

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婴儿早期短暂性低血糖伴阵发性眼球运动异常

婴儿早期阵发性眼球运动异常是葡萄糖转运蛋白 1 缺乏综合征 (GLUT1DS) 的初始症状之一。我们描述了四名患有暂时性低血糖的早期婴儿，表现为眼球运动异常。在引入生酮饮食（KD）后，他们的症状消失，他们的发育正常。由于未检测到 SLC2A1 中的变异，因此重新检查了脑脊液与血糖的比率 (C/B)，并且在正常范围内。退出 KD 后，四名患者均未出现症状复发。由于长期 KD 具有潜在的不良反应并可能影响患者及其家属的生活质量，因此在缺乏 SLC2A1 致病性变异的情况下，应考虑在婴儿晚期重新检查脑脊液葡萄糖。