Olculu Cemile Busra, Kanmaz Seda, Ince Tugce, Yilmaz Ozlem, Toprak Dilara Ece, Serin Hepsen Mine, Yilmaz Sanem, Tekgul Hasan
Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Ege University, İzmir, Turkey.
Eur J Paediatr Neurol. 2025 Jan;54:89-95. doi: 10.1016/j.ejpn.2025.01.001. Epub 2025 Jan 7.
To evaluate the efficacy of initial pharmacotherapy for infantile epileptic spasm syndrome (IESS) with electro-clinical outcome characteristics.
A retrospective comparative cohort study with 280 IESS patients was designed; I. vigabatrin monotherapy (n = 129, 46 %); II. hormonotherapy (ACTH/oral prednisolone) (n = 73, 26 %); and III. vigabatrin plus early initiation of hormonotherapy in the first 14 days (n = 78, 28 %). Two types of outcomes were defined: (1) short-term outcome with spasm cessation time ≤42 days and resolution of hypsarrhythmia on the EEG on ≤3 months and (2) long-term outcome with spasm relapse rate or evolution to a new epileptic syndrome.
The etiology-specific diagnoses of the IESS cohort were defined according to the ILAE classification: structural (n = 131, 46.8 %), genetic (n = 28, 10 %), metabolic (n = 13, 4.6 %), immune-infectious (n = 10, 3.6 %), and unknown (n = 98, 35 %). Each treatment modalities had similar short- and long-term outcome characteristics. However, hormonotherapy with steroids (ACTH/oral prednisolone) provided "early IESS resolution" with spasm cessation and resolution of hypsarrhythmia (p = 0.042). The relapse rates of IESS were significantly higher in the etiology well-defined group compared to the unknown group (p = 0.005). The genetic-etiology specific group was more likely to have evolved to a new electro-clinical syndrome with a rate of 83.3 % than the others (p = 0.039).
We observed that the early initiation of hormonotherapy with VGB (sequential therapy) should be investigated in etiology well-defined subgroup with short- and long-term outcome characteristics.
通过电临床结局特征评估婴儿痉挛综合征（IESS）初始药物治疗的疗效。
设计一项回顾性比较队列研究，纳入280例IESS患者；I. 氨己烯酸单药治疗（n = 129，46%）；II. 激素治疗（促肾上腺皮质激素/口服泼尼松龙）（n = 73，26%）；III. 氨己烯酸加在最初14天内尽早开始激素治疗（n = 78，28%）。定义了两种结局类型：（1）短期结局为痉挛停止时间≤42天且脑电图高峰失律在≤3个月内消失；（2）长期结局为痉挛复发率或演变为新的癫痫综合征。
IESS队列的病因特异性诊断根据国际抗癫痫联盟（ILAE）分类确定：结构性（n = 131，46.8%）、遗传性（n = 28，10%）、代谢性（n = 13，4.6%）、免疫感染性（n = 10，3.6%）和不明病因（n = 98，35%）。每种治疗方式具有相似的短期和长期结局特征。然而，使用类固醇的激素治疗（促肾上腺皮质激素/口服泼尼松龙）实现了“早期IESS缓解”，即痉挛停止且高峰失律消失（p = 0.042）。病因明确组的IESS复发率显著高于不明病因组（p = 0.005）。遗传病因特异性组演变为新的电临床综合征的可能性比其他组更高，比例为83.3%（p = 0.039）。
我们观察到，对于具有短期和长期结局特征的病因明确亚组，应研究尽早开始使用氨己烯酸的激素治疗（序贯疗法）。
