Guerrero Ruiz Graciela Del Pilar
Servicio de Neuropediatría, Hospital Militar Central, Universidad Militar Nueva Granada, Bogotá, Colombia. E-mail:
Medicina (B Aires). 2024 Sep;84 Suppl 3:75-80.
Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.
新生儿癫痫综合征是该年龄组遗传性和代谢性癫痫的一部分。虽然它们不是新生儿惊厥最常见的原因，但早期识别有助于采取更好的诊断和治疗方法。这些综合征可分为自限性新生儿综合征和早期婴儿癫痫性和发育性脑病（EIDEE）。虽然它们在某些类型的发作中可能有共同的症状学，如序列性发作，甚至在病因学上有共同基因的改变，但它们的演变却大不相同。在自限性新生儿综合征中，惊厥通常在生命的头几个月内缓解，精神运动发育正常，因此产生了“自限性”这个术语。然而，不应使用“良性”一词，因为有些患儿可能会出现惊厥复发、运动障碍或学习障碍。在EIDEE的情况下，惊厥通常对治疗无效，会影响脑功能和神经发育。在本综述中，我们的目的是描述新生儿癫痫综合征的电临床表型、最常涉及的基因及其临床谱、诊断方法以及推荐的治疗方法。
