McNally Melanie A, Johnson Julia, Huisman Thierry A, Poretti Andrea, Baranano Kristin W, Baschat Ahmet A, Stafstrom Carl E
Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Pediatr Neurol. 2016 Nov;64:87-91. doi: 10.1016/j.pediatrneurol.2016.08.003. Epub 2016 Aug 16.
SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management.
We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures. Ultrasound also revealed abnormal developmental states. With maternal administration of levetiracetam, the rhythmic fetal movements stopped. After birth, the patient developed treatment-refractory multi-focal epilepsy confirmed by electroencephalogram. Neuroimaging revealed restricted diffusion in the superior cerebellar peduncles, a finding not reported previously in EIEE13.
This is the first report of EIEE13 associated with clinical prenatal-onset seizures. Ultrasonography can be useful for identifying fetal seizures, which may be treatable in utero. Ideally, the clinical approach to fetal seizures should involve a multidisciplinary team spanning the pre- and postnatal course to expedite early diagnosis and optimize management, as illustrated by this patient.
SCN8A突变罕见，可导致一种表型异质性的早发性癫痫，称为13型早期婴儿癫痫性脑病（EIEE13，OMIM #614558）。目前尚无明确的基因型-表型相关性来指导患者咨询和管理。
我们描述了一名患有EIEE13的患者（SCN8A基因新发杂合致病性突变-p.Ile240Val（ATT>GTT）），其在产前出现母亲报告的间歇性、有节律的运动，经超声观察，这些运动疑似胎儿癫痫发作。超声还显示发育状态异常。在母亲使用左乙拉西坦后，胎儿的节律性运动停止。出生后，患者发展为难治性多灶性癫痫，脑电图证实了这一点。神经影像学显示上小脑脚区弥散受限，这一发现此前在EIEE13中未见报道。
这是EIEE13与临床产前发作性癫痫相关的首例报告。超声检查有助于识别胎儿癫痫发作，胎儿癫痫发作在子宫内可能是可治疗的。理想情况下，胎儿癫痫发作的临床处理应涉及一个涵盖产前和产后过程的多学科团队，以加快早期诊断并优化管理，本病例即说明了这一点。
