日本語フィールド
著者：*Daisuke Tajima, Takuji Nakamura, Fumio Ichinose, Nobuhiko Okamoto, Yuko Tomonoh, Keiko Uda, Rie Furukawa, Katsuya Tashiro, Muneaki Matsuo題名：Transient hypoglycorrhachia with paroxysmal abnormal eye movement in early infancy発表情報：Brain Dev 巻: 43 号: 3 ページ: 482-485キーワード：Abnormal eye movement; Early infancy; Glucose transporter 1; Hypoglycorrhachia概要：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. 抄録：英語フィールド
Author：*Daisuke Tajima, Takuji Nakamura, Fumio Ichinose, Nobuhiko Okamoto, Yuko Tomonoh, Keiko Uda, Rie Furukawa, Katsuya Tashiro, Muneaki MatsuoTitle：Transient hypoglycorrhachia with paroxysmal abnormal eye movement in early infancyAnnouncement information:Brain Dev Vol: 43 Issue: 3 Page: 482-485Keyword：Abnormal eye movement; Early infancy; Glucose transporter 1; HypoglycorrhachiaAn abstract：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. 