Klepper Joerg, Leiendecker Baerbel, Eltze Christin, Heussinger Nicole
Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.
Department of Pediatric Neurology University of Essen Essen Germany.
Mov Disord Clin Pract. 2016 Nov-Dec;3(6):607-610. doi: 10.1002/mdc3.12387. Epub 2016 Jul 8.
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events. Fifty-six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D-associated exercise-induced paroxysmal dyskinesias.
见补充视频。运动障碍是葡萄糖转运蛋白1缺乏症的主要特征。正如最近在成人阵发性运动诱发性肌张力障碍中所发现的那样，小儿葡萄糖转运蛋白1缺乏症也有类似情况的报道。在一个病例系列中，在临床随访时向葡萄糖转运蛋白1缺乏症患儿的家长索要了正常运动状态和阵发性事件的视频。向60个家庭发放了调查问卷。3名儿童非阵发性/阵发性状态的视频展示了阵发性事件的共济失调-肌张力障碍、舞蹈样和运动障碍-肌张力障碍性质。56份评估问卷在73%的患者中证实了这一观察结果。这些事件似乎随年龄增长而增加，由轻度酮症、睡眠剥夺和体育锻炼引发，与性别、脑脊液低糖、SLC2A1突变或生酮饮食类型无关。我们得出结论，阵发性事件是葡萄糖转运蛋白1缺乏症的主要临床特征，将小儿疾病与成人葡萄糖转运蛋白1缺乏症相关的运动诱发性阵发性运动障碍联系起来。
