Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, IE.
Temple Street Children's University Hospital, University College Dublin, IE.
Tremor Other Hyperkinet Mov (N Y). 2020 Oct 27;10:49. doi: 10.5334/tohm.549.
The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, writhing of arms, oculogyric crisis and visual and auditory hallucinations. She developed respiratory failure and was ventilated. No cause was found so whole exome sequencing was performed and this revealed a novel, non-synonymous heterozygous variant in exon 11 of the gene, K457E (c 1369A>G) in the patient but not her parents. This variant has not been previously reported in gnomAD or ClinVar. The finding of a de novo variant in a potassium channel gene guided a trial of the potassium channel antagonist 3,4 diaminopyridine resulting in significant improvement, discharge from the intensive care unit and ultimately home.
阵发性运动障碍的诊断较为困难，而肌张力障碍危象则是一种罕见的危及生命的运动障碍，其特征是严重、频繁或持续出现的肌张力障碍痉挛。一位 25 岁的女性，患有慢性共济失调和阵发性运动障碍，表现为面部抽搐、手臂扭曲、眼球偏斜危象以及视觉和听觉幻觉。她出现呼吸衰竭并接受了通气治疗。由于未找到病因，因此进行了全外显子组测序，结果在患者而非其父母的基因第 11 外显子中发现了一个新的、非同义的杂合变异，K457E（c.1369A>G）。该变异在 gnomAD 或 ClinVar 中均未有报道。钾通道基因突变的新发变异的发现，指导了钾通道拮抗剂 3,4 二氨基吡啶的试验，结果显著改善，患者从重症监护病房出院，最终返回家中。
