一名患有癫痫发作的幼儿出现异常步态和脑脊液糖含量降低。
Abnormal gait and hypoglycorrhachia in a toddler with seizures.
作者信息
Angeli Maria, Vergadi Eleni, Niotakis Georgios, Raissaki Maria, Galanakis Emmanouil
机构信息
Department of Paediatrics University General Hospital of Heraklion, School of Medicine, University of Crete Heraklion Greece.
Paediatric Neurology Clinic Venizeleion General Hospital Heraklion Greece.
出版信息
Pediatr Investig. 2022 Feb 21;6(1):47-49. doi: 10.1002/ped4.12311. eCollection 2022 Mar.
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.
引言
1型葡萄糖转运体（Glut1）缺乏综合征是一种可治疗的神经代谢紊乱疾病，其特征为癫痫发作、发育迟缓及脑脊液低糖。由于该病罕见且临床表现不具特异性，通常会被误诊或漏诊。
病例报告
我们报告一例幼儿病例，该幼儿表现为无热癫痫发作和异常步态。脑部影像学检查和脑电图均正常。对脑脊液的进一步检查发现脑脊液低糖，这是诊断Glut1缺乏综合征并开始采用生酮饮食治疗的线索。
结论
我们的病例强调了在对患有癫痫发作、异常步态或发育迟缓的儿童进行检查时进行腰椎穿刺的重要性，以免漏诊可治疗的神经代谢疾病，如Glut1缺乏综合征。
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