Doose H, Lunau H, Castiglione E, Waltz S
Epilepsy Center, Raisdorf, Germany.
Neuropediatrics. 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567.
While the literature on infantile epilepsies with minor and major seizures is extensive, little consideration has been given to infantile epilepsy with generalized tonic-clonic seizures (GTCS) alone. The aim of the present study was to analyze the data of a large group of patients and their families to obtain further insight into the clinical picture and pathogenesis of this type of epilepsy.
The 101 children (58 boys, 43 girls) met the following inclusion criteria: onset of the epilepsy with febrile or afebrile GTCS in the first 5 years of life, absence of primary organic brain lesion or progressive brain disease, severe course with frequent febrile and/or afebrile GTCS, failure of conventional anticonvulsive therapy.
The epilepsy predominantly afflicts normally developed infants, boys and girls being about equally affected. The epilepsy begins with frequent febrile or afebrile GTCS, characteristically of long duration and often with alternating lateralization. In half of the cases additional myoclonic or myoclonic astatic seizures and/or absences occur. The initial GTCS phase is the same in epilepsies with and without minor seizures. Erratic myoclonias are especially characteristic. With advancing age, the symptomatology becomes increasingly polymorphic due to the occurrence of additional simple and complex focal and tonic seizures. Severe impairment of mental development soon after onset is a leading symptom. The overall death rate was 9%. Only 11% of the patients had been seizure-free for at least two years at final examination. The EEG was initially normal and subsequently exhibited diffuse 4-7/s rhythms, and only later spikes and waves of irregular shape (87%). Focal sharp waves occurred transiently in 26%. The family history and EEG of probands and relatives showed the pathogenesis to be decisively determined by genetic factors.
Early infantile GTCS epilepsy represents a genetically determined (idiopathic) epileptic encephalopathy. It overlaps with other forms of early childhood epilepsy such as severe myoclonic epilepsy, severe type of myoclonic astatic epilepsy, as well as early childhood absence epilepsy with GTCS.
虽然关于伴有轻微和严重发作的婴儿癫痫的文献很多，但对于仅伴有全身强直阵挛发作（GTCS）的婴儿癫痫却很少有人关注。本研究的目的是分析一大组患者及其家庭的数据，以进一步了解这种类型癫痫的临床表现和发病机制。
101名儿童（58名男孩，43名女孩）符合以下纳入标准：在生命的前5年出现伴有发热或不伴有发热的GTCS癫痫发作，无原发性器质性脑病变或进行性脑部疾病，病情严重，频繁出现发热性和/或不发热性GTCS，常规抗惊厥治疗无效。
这种癫痫主要影响正常发育的婴儿，男孩和女孩受影响程度大致相同。癫痫发作始于频繁的发热性或不发热性GTCS，其特征是持续时间长，且常伴有交替性侧化。在一半的病例中，还会出现额外的肌阵挛或肌阵挛性失张力发作和/或失神发作。伴有和不伴有轻微发作的癫痫，其初始GTCS阶段相同。不规则肌阵挛尤为典型。随着年龄增长，由于出现额外的简单和复杂局灶性及强直发作，症状表现越来越多样化。发病后不久出现严重的智力发育障碍是主要症状。总死亡率为9%。在最后一次检查时，只有11%的患者至少两年无癫痫发作。脑电图最初正常，随后出现弥漫性4 - 7次/秒节律，只有后来出现不规则形状的棘波和慢波（87%）。26%的患者短暂出现局灶性尖波。先证者及其亲属的家族史和脑电图显示，发病机制在很大程度上由遗传因素决定。
早发性婴儿GTCS癫痫是一种由遗传决定的（特发性）癫痫性脑病。它与其他形式的儿童早期癫痫有重叠，如严重肌阵挛癫痫、严重型肌阵挛性失张力癫痫，以及伴有GTCS的儿童早期失神癫痫。
