Severe Myoclonic Epilepsy in Infancy: Evolution of Electroencephalographic and Clinical Features

嬰兒期重症肌躍型癲癇：臨床及腦波演變研究

王本榮(Pen-Jung Wang) ； 范碧娟(Pi-Chuan Fan) ； 李旺祚(Wang-Tso Lee) ； 楊千立(Chainllie Young) ； 黃昭純(Chao-Chuen Huang) ； 沈友仁(Yu-Zen Shen)

《Acta Paediatrica Sinica》 37卷6期 (1996/12) Pp. 428-432

https://doi.org/10.7097/APS.199612.0428

摘要

自從1987年，我們共診斷10名病童年（男4，女6)，合乎嬰兒期重症肌躍型癲癇的診斷基準，包括一歲內有泛發或單側持續極長的熱性間代型發作；一歲後有繼發肌躍型發作及其他多種型式的發作（局部發作，非典型失神及痙攣型癲癇重積症）；以及特定時期的神經精神惡化。一個病人有癲癇家族史，三個病人有熱性痙攣期腦波呈現正常，而phenobarbital的長期服用幷無法預防熱性痙攣的再發。在肌躍型發作期，腦波呈現汎棘-徐波，多棘-徐波，局部異常波，3名病童有光過敏性棘-徐波。抗癲癇藥的治療效果幷不理想。我們的經驗建議在肌躍型發作期，valproic acid.clonazepam及carbamazepine合用對於多種類發作如抽躍型發作，抽躍-强直-間代發作，非典型失神及局部發作的控制最爲有效。在4名超過7歲的病童，隨著汎髮型異常腦波的急速减少，肌躍型及非典型失神亦减少而消失，唯局部發作，次發性全身性發作及癲癇重積症發作仍然存在。這種特異癲癇症候群的病因及治療，需要進一步的研究、探討。

關鍵字

重症肌躍型癲癇 ； 癲癇症候群 ； 熱性痙攣 ； 腦波

並列摘要

Since 1987, we have diagnosed 10 patients, 4 males and 6 females, aged 2-11 years at the last evaluation, who all met the following criteria of severe myoclonic epilepsy in infancy (SMEI): generalized or unilateral long-lasting febrile clonic seizures in the first year of life; the subsequent appearance of myoclonic seizures and other types of seizure (partial seizures, atypical absences and convulsive status epilepticus); and neuropsychological deterioration for a certain period. Family histories of epilepsy and febrile seizures could be traced in 1 and 3 cases, respectively. None of them had previous personal history of brain insult. Electroencephalographic (EEGic) recordings in febrile seizure stage were normal; and continuous prophylaxis with phenobarbital failed to prevent the recurrence offebrile seizures, EEG studies in myoclonic stage showed generalized spike-and-waves, polyspike-and-waves, focal abnormalities and/or photosensitivity. The seizures were highly resistant to antiepileptic drugs. Our experiences suggested that comedication of valproic acid, clonazepam and carbamazepine may be most effective in treatment of the diverse seizures including myoclonic seizures, myoclonic-tonic-clonic seizures, atypical absences and partial seizures. Myoclonic seizures and atypical absences diminished in parallel to a clear-cut decrease in generalized abnormalities on EEG in 4 cases aged more than 7 years. However, the partial seizures, secondarily generalized seizures and status epilepticus were still present. Further investigations should aim to identify the underlying etiology and to search more effective treatment.

並列關鍵字

severe myoclonic epilepsy ； epileptic syndrome ； febrile seizure ； electroencephalogram