Fejerman N
Service de Neurologie, Hôpital de Pédiatrie, Buenos Aires, Argentina.
Rev Neurol (Paris). 1991;147(12):782-97.
The possible associations of myoclonic phenomena, progressive or non progressive encephalopathies and epileptic phenomena are reviewed with special emphasis on childhood. This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with myoclonic seizures or epileptic syndromes (Progressive myoclonus epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) myoclonic epilepsies. In the first group, which also includes physiological myoclonus, a more thorough description of "benign sleep myoclonus of newborn" and "benign myoclonus of early infancy" is given. Characteristic of group 2 are "Kinsbourne syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis problems with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed, meaning that "Progressive Myoclonus Epilepsies" are always in fact progressive encephalopathies presenting with myoclonic types of seizures or epileptic syndromes among other neurologic and psychologic signs and symptoms. Major and rare causes are reviewed. The term major is applied to typical features or to frequency, whereas rare causes include not only those what are rarely seen, but also some myoclonic variants of diseases which usually have different symptoms. The fourth group refers to severe epilepsies, mainly in infancy and childhood, which lead to mental retardation irrespective of their cause. The assumption is that diffuse and persistent epileptic activity may interfere with normal development of the higher cerebral functions. "West syndrome" and "Lennox-Gastaut syndrome" are the more representative examples and may present with myoclonic type of seizures, but they are not dealt with in detail here. Group 5 comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, such as "benign myoclonic epilepsy of infancy" and "juvenile myoclonic epilepsy", from those which are cryptogenic and carry a more cautious prognosis--i.e.: "cryptogenic myoclonic and myoclono-astatic epilepsies" and "Severe myoclonic epilepsy of infancy". Finally other epileptic syndromes usually not considered as myoclonic epilepsies, but presenting sometimes myoclonic seizures, are mentioned.
本文回顾了肌阵挛现象、进行性或非进行性脑病与癫痫现象之间可能存在的关联，并特别强调了儿童期的情况。这导致了以下五组病症：（1）无脑病和无癫痫的肌阵挛；（2）伴有非癫痫性肌阵挛的脑病；（3）伴有肌阵挛发作或癫痫综合征的进行性脑病（进行性肌阵挛癫痫）；（4）伴有肌阵挛发作的癫痫性脑病；（5）肌阵挛癫痫。在第一组中，其中还包括生理性肌阵挛，对“新生儿良性睡眠肌阵挛”和“婴儿早期良性肌阵挛”进行了更全面的描述。第二组的特征是“金氏综合征”和某些类型的“惊跳症”，它们与刺激敏感性癫痫存在有趣的鉴别诊断问题。在第三组中，强调了进行性脑病的概念，这意味着“进行性肌阵挛癫痫”实际上总是进行性脑病，除了其他神经和心理体征及症状外，还伴有肌阵挛发作类型或癫痫综合征。回顾了主要和罕见的病因。“主要”一词适用于典型特征或发生频率，而罕见病因不仅包括那些罕见的病因，还包括一些通常有不同症状的疾病的肌阵挛变体。第四组指的是严重癫痫，主要发生在婴儿期和儿童期，无论其病因如何都会导致智力发育迟缓。推测是弥漫性和持续性癫痫活动可能会干扰大脑高级功能的正常发育。“韦斯特综合征”和“伦诺克斯 - 加斯东综合征”是更具代表性的例子，可能会出现肌阵挛发作类型，但此处不做详细讨论。第五组包括真正的肌阵挛癫痫，将被认为是特发性的综合征，如“婴儿良性肌阵挛癫痫”和“青少年肌阵挛癫痫 ”，与那些隐源性且预后更谨慎的综合征区分开来，即：“隐源性肌阵挛和肌阵挛 - 无动性癫痫”以及“婴儿严重肌阵挛癫痫”。最后提到了其他通常不被视为肌阵挛癫痫，但有时会出现肌阵挛发作的癫痫综合征。
