Abstract：
BACKGROUND: Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits.
METHODS: We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases.
RESULTS: Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion.
CONCLUSIONS: In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.
METHODS: We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases.
RESULTS: Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion.
CONCLUSIONS: In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.
摘要：
背景：自从最初描述葡萄糖转运蛋白-1缺乏综合征（Glut1-DS）以来，该病症的表型已经扩大，甚至导致对非典型表现的认可。我们报告了八名Glut1-DS患者，他们至少经历了一次急性局灶性神经功能缺损。
方法：我们进行了回顾性分析，收集临床，电生理学,神经放射学，和遗传信息。我们特别关注三个有据可查的案件。
结果：在42例Glut1-DS患者中，8名年龄在6至38岁之间的患者出现急性神经系统紊乱：构音障碍/失语症，口腔运动障碍,吞咽困难,感觉异常,面神经麻痹,半/单瘫，呕吐,头痛,和行为障碍。执行时，磁共振成像（MRI）显示静脉充血和灌注不足的征象，脑电图显示局灶性对侧减慢。除一名患者外，所有患者的赤字都是短暂的。四名患者（50％）采用生酮饮食（KD），其中两名患者在发作期间的酮症血症水平低于通常水平.在两个病人中，MRI显示存在缺血性脑损伤。
结论：在Glut1-DS中，中风样发作是一种反复发作的表现，特别是在成年早期，在我们的队列中，19%的患者报告了这种情况。中风模仿应该被认为是Glut1-DS的关键特征，和其他阵发性疾病一样。KD是否可以预防发作的复发还有待确定，如果是,在什么程度的酮症。需要进一步的观察来证实Glut1-DS与缺血性卒中之间的相关性。
方法：我们进行了回顾性分析，收集临床，电生理学,神经放射学，和遗传信息。我们特别关注三个有据可查的案件。
结果：在42例Glut1-DS患者中，8名年龄在6至38岁之间的患者出现急性神经系统紊乱：构音障碍/失语症，口腔运动障碍,吞咽困难,感觉异常,面神经麻痹,半/单瘫，呕吐,头痛,和行为障碍。执行时，磁共振成像（MRI）显示静脉充血和灌注不足的征象，脑电图显示局灶性对侧减慢。除一名患者外，所有患者的赤字都是短暂的。四名患者（50％）采用生酮饮食（KD），其中两名患者在发作期间的酮症血症水平低于通常水平.在两个病人中，MRI显示存在缺血性脑损伤。
结论：在Glut1-DS中，中风样发作是一种反复发作的表现，特别是在成年早期，在我们的队列中，19%的患者报告了这种情况。中风模仿应该被认为是Glut1-DS的关键特征，和其他阵发性疾病一样。KD是否可以预防发作的复发还有待确定，如果是,在什么程度的酮症。需要进一步的观察来证实Glut1-DS与缺血性卒中之间的相关性。
