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病 例 分 享

Paroxysmal dyskinesias. 病 例 分 享. 庾亚芹 山西大医院神经内科. case presentation. 男，14岁，发作性面部、四肢异常姿势伴不自主活动6年 双侧腕、肘关节屈曲位，双手手指拿捏样，双足外翻，眨眼、龇嘴 持续数十秒可自动缓解 意识清楚，发作后可完全回忆 2- 10次 / 天，紧张、长时间运动或书写后出现 发作间期完全正常.

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病 例 分 享

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  1. Paroxysmal dyskinesias 病 例 分 享 庾亚芹 山西大医院神经内科

  2. case presentation • 男，14岁，发作性面部、四肢异常姿势伴不自主活动6年 • 双侧腕、肘关节屈曲位，双手手指拿捏样，双足外翻，眨眼、龇嘴 • 持续数十秒可自动缓解 • 意识清楚，发作后可完全回忆 • 2-10次/天，紧张、长时间运动或书写后出现 • 发作间期完全正常

  3. 既往体健，无特殊疾病病史（如围产期损伤、缺氧、脑炎、头颅外伤、多发性硬化、脑血管疾病等）。既往体健，无特殊疾病病史（如围产期损伤、缺氧、脑炎、头颅外伤、多发性硬化、脑血管疾病等）。 • 内科及神经系统查体均正常。 • 脑电图、头颅MRI、脑脊液检查、基本化验检查均正常。

  4. What is wrong with this little boy?

  5. Topical Diagnosis • 刺激症状？ • 皮层

  6. Diagnosis and differential diagnosis 发作性 ---癫痫（自动症）/低钙抽搐/低血糖发作？ 发作时意识清楚，发作后可完全回忆 脑电图正常，无癫痫样放电波 血钙及血糖监测均正常

  7. TOPICAL DIAGNOSIS • 锥体外系？

  8. 肌张力障碍---肝豆状核变性？ 病程呈发作性而非进行性加重 腹部彩超、肝功能均正常 铜蓝蛋白、24小时尿铜均正常 头颅MRI正常 无角膜Kayser-Fleischer环

  9. 肌张力障碍---Segawa病（多巴胺反应性肌张力障碍）？肌张力障碍---Segawa病（多巴胺反应性肌张力障碍）？ 无明显的强直及震颤 无明显昼间波动性 试验性左旋多巴治疗无效

  10. 肌张力障碍---Tourette综合征（抽动秽语综合征）？肌张力障碍---Tourette综合征（抽动秽语综合征）？ 有头面肌和四肢肌的突发不自主运动 无发音肌抽动所致的异常喉音

  11. 发作性 发作性运动障碍 Paroxysmal dyskinesias 肌张力障碍

  12. Clinical features childhood onset ，episodic 儿童起病，发作性, 发作间期正常 occur spontaneously or may be precipitated by sudden movements, prolonged exercise, caffeine and alcohol consumption, emotional stress, or fatigue. 自发的或者由突然的随意运动、长时间的运动、酒、咖啡、疲劳、紧张所诱发 characteristic clinical features --- sudden involuntary abnormal movements, comprising dystonia, chorea, athetosis, and ballism or a combination of these 突发的异常不自主运动，如肌张力不全、舞蹈样动作、手足徐动或投掷 样动作 duration of attacks can vary and may last from seconds to several hours 发作时间差别大，可持续数秒到数小时不等

  13. ETIOLOGY 遗传性 67% 散发性 33% 继发性 个案报道，多发性硬化、脑血管病、颅内 感染、外伤、偏头痛 原发性

  14. 发病机制？ • 反射性癫痫 症状反复发作性;对抗癫痫药物反应好;发作前多有感觉前驱症状；多合并癫痫。 • 基底节功能异常 发作表现为舞蹈样或姿势异常;发作时和发作间期EEG多正常;发作时无意识障碍;发作后立即能恢复正常。 • 离子通道病 与癫痫、偏头痛等离子通道病常合并出现，对抗癫痫药物反应好

  15. CLASSIFICATION OF PD ------BASED ON PRECIPITATING EVENTS • paroxysmal kinesigenicdyskinesias (PKD) 发作性运动诱发性运动障碍: 突然从静止到运动或改变运动形式诱发 • paroxysmal non-kinesigenicdyskinesias (PNKD)发作性非运动诱发性运动障碍 : 自发发生 • paroxysmal exercise-induced (exertion-induced) dyskinesias (PED)发作性过度运动导致的运动障碍: 在长时间运动后发生

  16. PKD • most commonly occur when a patient stands up quickly or is startled 迅速站起或受惊吓时 • a refractory period after an attack during which sudden movement may not provoke an attack 发作后有不应期 • attacks last less than 1 min发作小于1分钟 • frequency of attacks ---highly variable ranging from 100 per day to less than 1 per month100次/天---1次/月 • respond excellent to anticonvulsant treatment抗癫痫药有效

  17. PNKD • usually occur spontaneously，not precipitated by sudden movements or physical exertion 自发发生，不被突发运动或活动诱发 • may triggered by emotional stress, fatigue or consumption of alcohol or caffeine 紧张、疲劳或酒、咖啡可诱发 • attacks usually last between minutes up to 4 h发作持续数分钟到4小时 • frequency varying from one to three per day to months of attack-free intervals 发作频率1-3次/天---1-3次/月 • much more difficult to treat than PKD 较PKD难治疗

  18. PED • commonly precipitated by walking or running (lasting＞ 5–20 min), in some cases triggered by exposure to cold 长时间运动后诱发，如走路或跑步超过5-20分钟 • dystonic movement affecting lower limbs, often bilaterally 发作通常累及双侧下肢 • frequency of attacks varying between one per day to one per month发作频率1次/日到1次/月 • attacks lasting from 5 to 30 min发作持续5-30分钟

  19. Distinct features of PKD, PNKD, PED

  20. Final diagnosis 发作性运动诱发性运动障碍 予卡马西平治疗，疗效佳

  21. 谢谢！

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