一例发育性癫痫性脑病和巨幼红细胞性贫血的拉伸活化离子通道 TMEM63B 变异新病例

Kasumi Sasaki , Mitsuko Nakashima , Yuji Fujii , Shinji Itamura , Hirotomo Saitsu , Mitsuhiro Kato
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引用次数: 0

摘要

背景TMEM63B编码一种拉伸激活的离子通道,它介导阳离子电流以应对渗透压和机械压力。最近有报道称,在患有发育性和癫痫性脑炎以及进行性神经变性的患者中存在杂合子 TMEM63B 变异。在此,我们报告了一名患有 TMEM63B 变异的患者,她的癫痫发作通过生酮饮食(KD)疗法和培南帕尼(PER)得到了暂时控制。病例介绍 一名两岁的女性幼儿表现为早发性癫痫发作、严重的全身发育迟缓、四肢瘫痪、眼球震颤、中枢性视力障碍和巨幼红细胞性贫血。脑磁共振成像显示胼胝体变薄、髓鞘化延迟以及进行性大脑和小脑萎缩。外显子组测序发现了TMEM63B的一个新发杂合变异体(NM_018426.3:c.130G >A, p.(Val44Met)),该变异体被归类为致病性变异体。讨论/结论虽然大多数TMEM63B变异体患者的癫痫发作具有耐药性,但我们的患者在服用KD和PER后癫痫发作暂时得到控制。这种联合治疗可能对治疗 TMEM63B 变体患者的癫痫发作有效。
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A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant

Background

TMEM63B encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous TMEM63B variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a TMEM63B variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).

Case presentation

A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a de novo heterozygous variant of TMEM63B (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.

Discussion/Conclusion

Although most patients with TMEM63B variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the TMEM63B variant.
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