Background

Ferric chelate reductase 1 like (FRRS1L) encephalopathy is a rare cause of developmental and epileptic encephalopathy. Only a few cases have been reported thus far and seizures tend to be drug refractory. We report an additional case to highlight the good seizure response to sulthiame.

Case report

A boy from non-consanguineous parents presented with history of ‘abnormal movements’ from 7 months of age. At one year of age, video electroencephalogram (EEG) monitoring demonstrated the ‘abnormal movements’ to be clonic seizures. Valproate, lamotrigine and clobazam combination were only partially effective at reducing the seizures. Repeat EEG at 1 year 8 months old revealed a continuous spikes-and-waves during slow sleep (CSWS) pattern, prompting a trial of sulthiame. After 2 weeks of sulthiame, seizures ceased completely. The clonic seizures recurred at age 4 years when sulthiame supply was interrupted, but the seizures promptly remitted following sulthiame’s resumption. Subtle choreiform movements appeared from age one year and later became more prominent. Whole exome sequencing (WES) identified a homozygous novel variant (nonsense) in the FRRS1L gene (NM_014334.3: c.670C>T:p.Gln224*). He has been seizure free since 4 years of age but remained profoundly delayed.

Conclusion

Sulthiame may have a role in the early treatment of seizures in children with refractory epilepsy due to FRRS1L mutation.

中文翻译：

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FRRS1L 脑病患儿的阵挛性癫痫发作、缓慢睡眠期间持续的棘波、舞蹈手足徐动症和对磺胺药的反应

背景

铁螯合还原酶 1 样 (FRRS1L) 脑病是发育性和癫痫性脑病的罕见病因。迄今为止，仅报告了少数病例，癫痫发作往往是药物难治的。我们报告了一个额外的案例来强调对 sulthiame 的良好癫痫反应。

案例报告

一名来自非近亲父母的男孩在 7 个月大时出现“异常运动”史。在一岁时，视频脑电图 (EEG) 监测显示“异常运动”是阵挛性癫痫发作。丙戊酸盐、拉莫三嗪和氯巴占组合在减少癫痫发作方面仅部分有效。在 1 岁 8 个月大时重复脑电图显示慢睡眠 (CSWS) 模式期间出现连续的尖峰和波，促使对 sulthiame 进行试验。sulthiame 2 周后，癫痫发作完全停止。当 sulthiame 供应中断时，阵挛性癫痫发作在 4 岁时复发，但在 sulthiame 恢复后癫痫发作迅速缓解。微妙的舞蹈动作从一岁开始出现，后来变得更加突出。全外显子组测序 (WES) 在 FRRS1L 基因 (NM_014334.3: c.670C>T:p.Gln224*) 中鉴定出一个纯合新变体（无意义）。他从 4 岁起就没有癫痫发作，但仍然严重延迟。

结论

Sulthiame 可能在早期治疗因 FRRS1L 突变引起的难治性癫痫患儿的癫痫发作中发挥作用。