Gburek-Augustat Janina, Heinze Anja, Abou Jamra Rami, Merkenschlager Andreas
Division of Neuropaediatrics, Hospital for Children and Adolescents University Hospital Leipzig Leipzig Germany.
Institute of Human Genetics University Hospital Leipzig Leipzig Germany.
Mov Disord Clin Pract. 2020 Oct 6;7(8):965-970. doi: 10.1002/mdc3.13087. eCollection 2020 Nov.
A rare symptom of Glut1 deficiency syndrome (Glut1 DS) is hemiplegic migraine (HM).
We report a patient with Glut1 DS with a mild phenotype. His leading symptom was HM. As an unusual complication of the initiation of a ketogenic diet (KD), our patient developed paroxysmal nonkinesigenic dyskinesia. Paroxysmal dyskinesia occurred first and exclusively at the initiation of KD.
There are a few case reports for HM in Glut1 DS. All patients had additional neurological symptoms. Regarding central nervous system symptoms such as paroxysmal dyskinesia triggered by KD, we found only 1 other case report.
HM is part of the symptom complex of Glut1 DS and can be effectively treated by KD. Paroxysmal dyskinesia trigged by the initiation of KD should not lead to the discontinuation of the diet in Glut1 DS.
葡萄糖转运蛋白1缺乏综合征(Glut1 DS)的一种罕见症状是偏瘫性偏头痛(HM)。
我们报告了一名患有轻度表型的Glut1 DS患者。他的主要症状是HM。作为生酮饮食(KD)起始的一种不寻常并发症,我们的患者出现了阵发性非运动诱发性运动障碍。阵发性运动障碍首先且仅在KD起始时出现。
关于Glut1 DS中HM的病例报告较少。所有患者都有其他神经系统症状。关于KD引发的阵发性运动障碍等中枢神经系统症状,我们仅发现1例其他病例报告。
HM是Glut1 DS症状复合体的一部分,可通过KD有效治疗。KD起始引发的阵发性运动障碍不应导致Glut1 DS患者停止饮食。