摘要
AbstractIntroduction:Glucose transporter type 1 (Glut1) deficiency syndrome is a treatable neurometabolic disorder characterized by seizures, developmental delay, and hypoglycorrhachia. Due to the rareness and non-specific clinical manifestations, it is usually mis- or underdiagnosed.Case presentation:We report the case of a toddler who presented with afebrile epileptic seizures and abnormal gait. Brain imaging and electroencephalogram were normal. Further investigation of the cerebrospinal fluid revealed hypoglycorrhachia that was the clue to the diagnosis of Glut1 deficiency syndrome and the initiation of treatment with ketogenic diet.Conclusion:Our case highlights the importance of lumbar puncture while investigating a child with epileptic seizures and abnormal gait or developmental delay, in order not to miss treatable neurometabolic conditions, such as Glut1 deficiency syndrome.
机构地区
Department of Paediatrics, University General Hospital of Heraklion, School of Medicine, University of Crete, Heraklion, Greece,Paediatric Neurology Clinic, Venizeleion General Hospital, Heraklion, Greece,Department of Radiology, University General Hospital of Heraklion, School of Medicine, Universi
出版日期
2022年12月13日（中国期刊网平台首次上网日期，不代表论文的发表时间）
