文章摘要
陈泱儒 ，唐荣 ，邵志海 ，李潍 ，费国强, ，汪昕，.发作性运动诱发性运动障碍4例临床特征 及视频脑电图分析[J].神经损伤功能重建,2024,(6):321-325
发作性运动诱发性运动障碍4例临床特征 及视频脑电图分析
Clinical Characteristics and Video Electroencephalogram Analysis of Four Cases of Paroxys⁃mal Kinesigenic Dyskinesia
  
DOI：
中文关键词: 发作性运动诱发性运动障碍  视频脑电图  PRRT2基因  癫痫
英文关键词: paroxysmal kinesigenic dyskinesia  video electroencephalogram  PRRT2 gene  epilepsy
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作者单位
陈泱儒1 ，唐荣1 ，邵志海1 ，李潍1 ，费国强1,2 ，汪昕1，2 1. 复旦大学附属中 山医院厦门医院神 经内科 2. 复旦大学附属中 山医院神经内科 
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中文摘要:
      目的：探讨发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）的临床表现、脑电图 结果、影像学特征、PRRT2基因突变特点及治疗方法。方法：回顾性分析4例PKD患者的人口学特征、临床 表现、脑电图检查、影像学检查、PRRT2基因检测结果及药物治疗，并根据上述结果总结PKD相关特点。结 果：在4例PKD患者中，男性3例，女性1例，起病年龄11～20岁。临床症状均表现为由运动引发的单侧或 双侧肢体扭转和痉挛、持续时间不超过1 min，发作时意识清楚。在长程视频脑电图检查中，2例患者检查 结 果 未 见 异 常 。 3 例 患 者 进 行 PRRT2 基 因 检 测 ，其 中 1 例 患 者 PRRT2 基 因 突 变 阳 性 ，检 测 出 PRRT2c.649dupC杂合突变。小剂量的抗癫痫药物均可效控制发作。结论：PKD具有独特的临床特点，易 被误诊为癫痫，长程视频脑电图检测对PKD具有重要的诊断价值。当PKD合并其他发作性疾病或存在阳 性家族病史时，建议进行PRRT2基因检测。长期规律服用小剂量抗癫痫药可明显改善发作。
英文摘要:
      To investigate the clinical manifestations, electroencephalogram (EEG) results, imaging characteristics, PRRT2 gene mutation features, and treatment methods of paroxysmal kinesigenic dyskinesia (PKD). Methods: A retrospective analysis was conducted on the demographic characteristics, clinical manifestations, EEG, imaging, PRRT2 gene testing results, and medication treatments of 4 PKD patients. The characteristics of PKD were summarized according to the above results. Results: Among the 4 PKD patients, there were 3 males and 1 female, with an age of onset ranging from 11 to 20 years. The clinical symptoms all manifested as unilateral or bilateral limb twisting and spasms triggered by movement, lasting no longer than 1 minute, and the consciousness was clear during episodes. In the long-term video EEG examinations, 2 patients showed no abnormalities. PRRT2 gene testing was conducted on 3 patients, among which 1 patient tested positive for a PRRT2 c.649dupC heterozygous mutation. Low doses of antiepileptic drugs could effectively control the episodes. Con⁃ clusion: PKD has unique clinical characteristics and is easily misdiagnosed as epilepsy. Long-term video EEG detection has significant diagnostic value for PKD. PRRT2 gene testing is recommended when PKD is combined with other episodic diseases or when there is a positive family history. Long-term regular use of low doses of antiepileptic drugs can significantly improve seizures.
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