PDF(Pubmed)
Abstract：
We describe a neonate presenting on first day of life with refractory seizures secondary to a single, large area of focal cortical dysplasia (FCD) who underwent surgical resection at age 3 weeks leading to resolution of seizure activity and dramatic improvement in developmental trajectory. Surgical intervention for epilepsy is infrequently offered for neonates, often reserved only for those with catastrophic presentations. This case demonstrates that surgical intervention can be safe and efficacious in neonates for pharmaco-resistant seizures associated with a focal lesion. Rapid whole exome sequencing in this case yielded a germline novel de novo TSC1 mutation, leading to a genetic diagnosis of tuberous sclerosis complex (TSC). Our patient demonstrates an atypical neonatal presentation of TSC. Limited data is available for those with isolated FCD in TSC; this is the first reported case in a neonate.
摘要：
我们描述了一个新生儿在出生后第一天出现的难治性癫痫发作，大面积局灶性皮质发育不良（FCD），在3周龄时接受手术切除，导致癫痫发作活动消退，发育轨迹显着改善。很少为新生儿提供癫痫的手术干预，通常只为那些有灾难性演示的人保留。此病例表明，对于与局灶性病变相关的药物抗性癫痫发作，手术干预在新生儿中是安全有效的。在这种情况下，快速的全外显子组测序产生了种系新的新生TSC1突变，导致结节性硬化症（TSC）的遗传诊断。我们的患者表现为TSC的非典型新生儿表现。TSC中孤立FCD的患者的数据有限；这是新生儿中的第一例报告病例。
