婴儿期癫痫伴转移性局灶性癫痫发作(EIMFS)是一种罕见的破坏性婴儿癫痫性脑病,其特征在于多灶性同时癫痫发作的独特脑电图(EEG)特征。虽然EIMFS没有明确的病因,某些离子通道中的突变,有牵连。同样,苯丙氨酰-tRNA合成酶2(FARS2)缺乏症是一种罕见的,功能失调的线粒体翻译引起难治性癫痫发作的常染色体隐性遗传疾病,乳酸性酸中毒,和发育回归与各种脑电图的发现。然而,FARS2缺乏症的EEG类似EIMFS模式最近才报道过一次。在这里,我们描述了一名7周大的男性癫痫发作,其中全外显子组测序(WES)显示致病性FARS2变异和EEG的EIMFS模式.这个案例为EIMFS提供了一种新的遗传机制。当检测到EIMFS以评估FARS2缺陷时,我们鼓励早期考虑WES,尤其是在严重的乳酸性酸中毒中。
Epilepsy of infancy with migrating focal seizures (
EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for
EIMFS, mutations in certain ion channels, are implicated. Similarly, phenylalanyl-tRNA synthetase 2 (FARS2) deficiency is a rare, autosomal recessive disorder of dysfunctional mitochondrial translation causing refractory seizures, lactic acidosis, and developmental regression with a variety of EEG findings. However, an
EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. This case provides an insight on a novel genetic mechanism for
EIMFS. We encourage early consideration of WES when
EIMFS is detected to evaluate for FARS2 deficiency, especially in the setting of profound lactic acidosis.