Abnormal gait and hypoglycorrhachia in a toddler with seizures

• 作者: Angeli Maria Vergadi Eleni Niotakis Georgios Raissaki Maria Galanakis Emmanouil
• 来源期刊: 儿科学研究（英文）
• 关键词: Epilepsy Glut1 deficiency Developmental delay Ataxia Hypoglycorrhachia
• 年，卷（期）: 2022,（1）
• 所属期刊栏目: Case Report
• 页码范围: 47-49
• 页数: 3页
• 语种: 中文
• DOI: 10.1002/ped4.12311

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.