典型文献
Abnormal gait and hypoglycorrhachia in a toddler with seizures
文献摘要：
Introduction::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.
文献关键词：
Epilepsy;Glut1 deficiency;Developmental delay;Ataxia;Hypoglycorrhachia
中图分类号：
作者姓名：
Angeli Maria;Vergadi Eleni;Niotakis Georgios;Raissaki Maria;Galanakis Emmanouil
作者机构：
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, University of Crete, Heraklion, Greece
文献出处：
引用格式：
[1]Angeli Maria;Vergadi Eleni;Niotakis Georgios;Raissaki Maria;Galanakis Emmanouil-.Abnormal gait and hypoglycorrhachia in a toddler with seizures)[J].儿科学研究（英文）,2022(01):47-49
A类：
hypoglycorrhachia,toddler,neurometabolic,afebrile,ketogenic,Hypoglycorrhachia
B类：
Abnormal,gait,seizures,Introduction,Glucose,transporter,type,Glut1,deficiency,syndrome,treatable,disorder,characterized,by,developmental,delay,Due,rareness,specific,clinical,manifestations,usually,underdiagnosed,Case,presentation,We,report,case,who,presented,epileptic,abnormal,Brain,imaging,electroencephalogram,were,Further,investigation,cerebrospinal,fluid,revealed,that,was,clue,diagnosis,initiation,treatment,diet,Conclusion,Our,highlights,importance,lumbar,puncture,while,investigating,child,not,miss,conditions,such,Epilepsy,Developmental,Ataxia
AB值：
0.520278
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