BaniHammad Noora, Jadah Raafat Hamad Seroor H
Medicine and Surgery, Bahrain Defence Force Hospital, Riffa, BHR.
Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Cureus. 2024 Dec 11;16(12):e75572. doi: 10.7759/cureus.75572. eCollection 2024 Dec.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE. We report a case of a male neonate with SRSE who failed to respond to first-line and second-line antiepileptic drugs (AEDs), including benzodiazepines, phenobarbital, levetiracetam, and midazolam infusion. Following an extensive review of the available treatment options, lacosamide was introduced as a third-line agent. When lacosamide was introduced to the treatment regimen, it led to a significant reduction in seizure frequency and ultimately achieved seizure control. Lacosamide was well tolerated by the patient with no significant side effects. Upon further assessment of the patient using whole exome sequencing (WES), it was elucidated that he is a carrier of the gene mutation, which is known as syndromic X-linked intellectual developmental disorder of the Snijders Blok type (MRXSSB). This syndrome is characterized by global developmental delay, intellectual disability, behavioral disorders, and seizures. However, the neonate described in our case report presents in an atypical manner in comparison to those with a gene mutation. This case highlights lacosamide's potential role in the management protocol of SRSE, particularly in neonatal patients with MRXSBB who are unresponsive to standard therapies. It is important to shed light on the possibility of using lacosamide in SRSE in neonates. However, further studies are needed to establish lacosamide's efficacy and safety profile more comprehensively. This case contributes to the growing body of evidence supporting lacosamide's use in difficult-to-treat seizure disorders.
超难治性癫痫持续状态（SRSE）的定义为，在使用麻醉药物治疗超过24小时后仍持续或复发的癫痫持续状态，包括在减少或停用麻醉药物时出现癫痫复发的病例。超难治性癫痫持续状态对神经科医生构成了重大挑战，尤其是在标准治疗未能控制癫痫发作时。拉科酰胺具有独特的作用机制，可通过增强电压门控钠通道的缓慢失活来调节这些通道，已成为治疗SRSE的一种潜在选择。我们报告了一例患有SRSE的男性新生儿病例，该患儿对一线和二线抗癫痫药物（AEDs）无反应，这些药物包括苯二氮䓬类、苯巴比妥、左乙拉西坦和咪达唑仑静脉输注。在广泛评估了可用的治疗方案后，引入拉科酰胺作为三线药物。当将拉科酰胺引入治疗方案时，癫痫发作频率显著降低，最终实现了癫痫控制。患者对拉科酰胺耐受性良好，无明显副作用。使用全外显子组测序（WES）对患者进行进一步评估后发现，他是基因突变的携带者，该基因突变被称为斯奈德·布洛克型综合征性X连锁智力发育障碍（MRXSSB）。该综合征的特征是全面发育迟缓、智力残疾、行为障碍和癫痫发作。然而，我们病例报告中描述的新生儿与有基因突变的患者相比，表现方式不典型。该病例突出了拉科酰胺在SRSE治疗方案中的潜在作用，特别是在对标准治疗无反应的MRXSBB新生儿患者中。阐明在新生儿SRSE中使用拉科酰胺的可能性很重要。然而，需要进一步研究以更全面地确定拉科酰胺的疗效和安全性。该病例为支持拉科酰胺用于难治性癫痫疾病的证据不断增加做出了贡献。
