一例 CLCN4 相关性癫痫,表现为伴有迁移性局灶性癫痫发作的婴儿期癫痫

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摘要

背景CLCN4致病变体可导致X连锁智力障碍和癫痫。CLCN4相关性癫痫表现为失神、强直和局灶性发作等多种发作,对治疗具有难治性,并伴有严重的全面发育迟缓。我们在此报告一例婴儿期癫痫伴迁移性局灶性发作(EIMFS)病例,患者为一名3个月大的男婴,围产期无异常病史,也无癫痫家族史。最初,患者的双上肢和左脸出现抽搐发作,局灶性癫痫治疗无效。随后,由于癫痫发作时病灶部位开始从左半球转移到右半球,患者被诊断为EIMFS。使用多种抗癫痫药物治疗也无法控制癫痫发作,但最后使用溴化钾治疗后有了反应。全外显子组测序发现了一个新的CLCN4基因变异,即NM_001830.4:c.854A>G,p.(Tyr285Cys)。讨论/结论迄今为止,世界上已有24例CLCN4相关癫痫的报道,除本例外,只有一例EIMFS。此外,据我们所知,以前还没有任何报道详细介绍过出现 EIMFS 的 CLCN4 相关癫痫病例的临床过程。要了解 CLCN4 相关癫痫的病理生理学,并确定治疗方法,还需要进一步的研究和临床病例的积累。
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A case of CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures

Background

CLCN4 pathogenic variants cause X-linked intellectual disability and epilepsy. CLCN4-related epilepsy presents with a variety of seizures including absence, tonic, and focal seizures, is refractory to treatments, and is complicated by severe global developmental delay. We herein report a case of epilepsy of infancy with migrating focal seizures (EIMFS) in a male infant with CLCN4 variant.

Case presentation

The patient was a 3-month-old male with no abnormal perinatal history or family history of epilepsy. Initially, the patient developed convulsive seizures in both upper limbs and the left face, which were refractory to focal epilepsy treatments. Subsequently, a diagnosis of EIMFS was made because the focal sites began to shift from the left hemisphere to the right hemisphere during seizures. The seizures could not be controlled with polytherapy using antiseizure medications, but finally responded to potassium bromide. Whole exome sequencing revealed a novel de novo CLCN4 variant, NM_001830.4:c.854A>G,p.(Tyr285Cys).

Discussion/conclusion

To date, there have been 24 reported cases of CLCN4-related epilepsy in the world, with only one case of EIMFS, excluding the present case. Additionally, to the best of our knowledge, there have been no previous reports that included a detailed clinical course of a case of CLCN4-related epilepsy showing EIMFS. Further studies with accumulation of clinical cases are needed to understand the pathophysiology of CLCN4-related epilepsy, as well as to establish treatment methods.
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