目的:探讨口周肌阵挛伴失神的临床特点和发病机制。方法:分析其临床特点、脑电图表现和治疗。结果:发作表现为口周肌肉节律性抽动,伴有短暂意识障碍,发作次数较频繁。发作期脑电图特征为阵发广泛性2.5 Hz棘慢波,发作间期脑电图、头颅影像学均正常。给予丙戊酸钠治疗有显效。结论:口周肌阵挛伴失神是一种少见的特发性全面性癫痫综合征,诊断依靠详细的发作症状和脑电图表现。 Objective: To identify the clinical characteristics and electro-encephalographic (EEG) features of perioral myoclonia with absence (PMA). Methods: A case with PMA was reported in this study. Clinical manifestations, Video-EEG, treatment and prognosis were analyzed. Results: Perioral myoclonia consists of rhythmic protrusion of the lips, twitching of the corners of the mouth ac-companied by disturbance of consciousness. His neurological examination was normal. The background activity on the interictal EEG was normal. The ictal EEG characteristics were generalized discharges of 2.5 Hz spikes and slow wave burst. Brain MRI was also normal. Sodium valproate has a significant effect to cure PMA. Conclusions: PMA is a rare type of idiopathic generalized epilepsy syndrome characterized by absences with ictal motor symptoms of perioral myoclonia, whose correct diagnosis is obtained on the basis of full manifestations in detail and Video-EEG monitoring.
口周肌阵挛伴失神,癫痫,脑电图, Perioral Myoclonia with Absences Epilepsy EEG口周肌阵挛伴失神临床分析
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1. 引言
失神发作(absence seizure)是儿童期癫痫的一种多见类型,其电-临床特点已经被广泛了解。Panayiotopoulos于1994年首次报道了6例口周肌阵挛伴失神(perioral myoclonia with absences, PMA)患者,被认为是一种新的癫痫综合征 [1] ,此发作类型一直被争议,在国际癫痫分类中没有达成一致的认识 [2] 。它不同于典型失神发作,意识障碍不明显,易被家属和医生忽视,尤其是被其他疾患所掩盖时更容易漏诊。我科报道一例临床资料如下:
2. 临床资料
患儿,男,12岁,体重50 kg,身高163 cm (注:该报道获得病人家属的知情同意)。6年前开始出现发作性咧嘴、斜眼,瞬间即过,情绪紧张和熬夜后发作增多。曾被诊断为“儿童多动症”,长期服用硫必利无明显疗效。近期因发作频繁来医院就诊。患者自诉发作时意识清楚,不能控制发作,无肢体抽搐和先兆。患者足月剖腹产,无外伤、高热惊厥、脑炎等病史。学习成绩优良,家族中无癫痫病史及其他特殊病史。
高 伟. 口周肌阵挛伴失神临床分析Clinical Analysis of Perioral Myoclonia with Absence[J]. 国际神经精神科学杂志, 2018, 07(04): 42-45. https://doi.org/10.12677/IJPN.2018.74007
参考文献ReferencesPanayiotopoulos, C.P., Ferrie, C.D., Giannakodimos, S.E. and Robinson, R.E. (1994) Perioral Myoclonia with Absences: A New Syndrome. In: Wolf, P., Ed., Epileptic Seizures and Syndromes, John Libbey & Company Ltd, London, 143-153.吴逊, 李文慧. 国际抗癫痫联盟和名词委员会推荐的癫痫发作的临床及脑电图分类[J]. 中华神经科杂志, 2001, 34(3): 187-198.Clemens, B. (1997) Perioral Myoclonia with Absences? A Case Report with EEG and Voltage Mapping Analysis. Brain, 19, 353-358.刘晓燕. 临床脑电图学[M]. 北京: 人民卫生出版社, 2006: 255-256.贺嘉, 朱雨岚. 失神癫痫发病机制、病理生理及起源的研究进展[J]. 中风与神经疾病杂志, 2012, 29(1): 94-96.Vrielynck, P., Rostomashvili, N., Degroote, E., et al. (2011) Perioral Myoclonia with Absences and Myoclonic Status Aggravated by Oxcarbazepine. Epileptic Disorders, 13, 308-312.陈银波, 辛翠娟, 王丽君, 等. 儿童多发性抽动症的视频脑电图分析[J]. 中国实验诊断学, 2011, 159(9): 1567-1568.Panayiotopoulos, C.P., Obeid, T., Waheed, G., et al. (1989) Differentiation of Typical Absence Seizures in Epileptic Syndromes. A Video EEG Study of 224 Seizures in 20 Patients. Brain, l12, 1039-1056.Panayiotopoulos, C.P., Ferrie, C.D., Giannakodimos, S., et al. (1995) Perioral Myoclonia with Absences. In: Duncan, J.S. and Panayiotopoulos, C.P., Eds., Typical Absences and Related Epileptic Syndromes, Churchill Livingstone, London, 221-230.