Dalla Bernardina B, Dulac O, Fejerman N, Dravet C, Capovilla G, Bondavalli S, Colamaria V, Roger J
Eur J Pediatr. 1983 Jun-Jul;140(3):248-52. doi: 10.1007/BF00443371.
The authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life. At onset it is associated with: myoclonic jerks, partial fits and periodic paroxysmal EEG abnormalities. Repeated spasms coexisting with partial fits and 'suppression-bursts' (both appearing later) complete the electroclinical picture. The neurological status (initially normal) progressively deteriorates leading within a few months to a decerebrate posture with opisthotonos. In spite of thorough neuroradiological, biochemical, cytological, metabolic, and ultrastructural investigations, the etiology remained unknown. However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose the name of Early Myoclonic Epileptic Encephalopathy. This type deserves to be classified as a particular electroclinical entity among the epileptic encephalopathies of the first year of life; since its course is regularly downhill in all cases there may be a familial recurrence due to the possibility of a metabolic etiology.
作者描述了9例在出生后2天至10周起病的肌阵挛性癫痫性脑病的临床电生理特征及演变过程。起病时伴有：肌阵挛抽搐、部分性发作和周期性阵发性脑电图异常。反复痉挛与部分性发作及“抑制-爆发”（两者均较晚出现）并存，构成了临床电生理表现。神经系统状态（起初正常）逐渐恶化，数月内导致去大脑强直姿势和角弓反张。尽管进行了全面的神经放射学、生化、细胞学、代谢和超微结构检查，病因仍不明。然而，临床电生理及演变模式与某些代谢性疾病（多系统发育异常、非酮症高甘氨酸血症等）相似。所有这些观察结果显示出一种一致的临床电生理模式，作者为此提出了“早发性肌阵挛性癫痫性脑病”这一名称。这种类型应被归类为1岁以内癫痫性脑病中的一种特殊临床电生理实体；由于其病程在所有病例中均呈进行性恶化，且可能存在代谢性病因，故可能有家族性复发。
