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首页> 外文期刊>The neurologist. >Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature
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Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature

机译：乙酰唑胺响应性的情节发作，没有基线的缺陷或癫痫发作，缺乏Glut1缺乏：一个案例报告和文献审查

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Introduction:Glucose transporter type 1 deficiency syndrome (GLUT1 DS) is caused by impaired glucose transport across the blood-brain barrier and commonly presents as severe early onset epilepsy, developmental delay, and movement abnormalities. In rare instances, GLUT1 DS can present as a paroxysmal movement disorder without the other classic symptoms. Episodic ataxia (EA) secondary to GLUT1 DS has been previously reported, but all previous patients had seizures and/or baseline abnormalities on neurological examination. Isolated acetazolamide-responsive EA secondary to GLUT1 DS without deficits on neurological examination and without seizures has not been described.Case Report:A 4-year-old boy presented with EA, no baseline neurological abnormalities, and no history of seizures. He was initiated on acetazolamide with a 75% improvement in frequency and severity of episodes. A genetic testing panel for EAs subsequently returned positive for a mutation in the SLC2A1 gene and cerebrospinal fluid analysis showed hypoglycorrhachia in the setting of normal blood glucose, which confirmed the diagnosis of GLUT1 DS. His symptoms resolved completely with ketogenic diet initiation even with discontinuation of acetazolamide.Conclusions:To our knowledge, this represents one of the mildest described presentations of nonepileptic GLUT1 DS consisting of acetazolamide-responsive EA without seizures or baseline neurological examination abnormalities. Our experience supports increased vigilance for this treatable cause of EA.
机译：简介：葡萄糖转运蛋白1型缺乏症综合征（Glut1 DS）是由于血脑屏障的血糖输送受损，通常是严重的早期发病癫痫，发育延迟和运动异常。在罕见的情况下，Glut1 DS可以作为阵发性运动障碍呈现，没有其他经典症状。先前已经报道了继发于Glut1 DS的焦点和ea），但所有之前的患者都癫痫发作和/或基线异常对神经系统检查。尚未描述分离的乙酰唑胺响应eA次级到Glut1 DS，没有缺乏神经系统检查和没有癫痫发作.Case报告：一个4岁的男孩展示了EA，无基线神经异常，没有癫痫发作的历史。他在乙酰唑胺上启动，发作的频率和严重程度提高了75％。 EAS的遗传检测面板随后返回SLC2A1基因中的突变阳性，脑脊液分析显示出正常血糖的设置，这证实了Glut1 DS的诊断。他的症状完全通过酮唑胺的停止结转，即使是乙酰唑胺的停止，即我们的知识，这代表了由没有癫痫发作或基线神经检查异常组成的乙酰唑胺响应EA组成的中未描述的非渗透蛋白响应EA的最阳胀的介绍的介绍之一。我们的经验支持这种可治疗原因的警惕性增加。

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