Lorenzo Jocelyn, Dolce Alison, Lowden Andrea
University of Texas Southwestern Medical Center, Dallas, TX, USA.
Children's Medical Center, Dallas, TX, USA.
J Child Neurol. 2021 Oct;36(12):1086-1094. doi: 10.1177/08830738211030804. Epub 2021 Sep 6.
duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described.
In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used.
Eight out of 9 patients with MECP2DS developed epilepsy, with 56% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic seizure was the most common semiology. Majority were pharmacoresistant (63%).
The goal of this case series is to better define the clinical and electrophysiological aspects of the epilepsy associated with duplication syndrome and provide practical guidance regarding management.
重复综合征（MECP2DS）是一种X连锁隐性综合征，其特征为婴儿期肌张力减退、严重神经发育迟缓、智力残疾、进行性痉挛、反复感染和癫痫发作。超过50%的病例与癫痫有关。这些患者的癫痫发作症状学和脑电图（EEG）表现描述较少。
在本病例系列中，作者描述了在其机构就诊的MECP2DS患儿的电临床特征。此外，他们回顾了癫痫发作类型和使用的治疗方法。
9例MECP2DS患者中有8例发生癫痫，56%的患者初始脑电图正常。广泛性慢波伴广泛性和局灶性/多灶性放电是最常见的脑电图模式，这与先前的研究一致。失张力发作是最常见的症状学表现。大多数患者药物难治（63%）。
本病例系列的目的是更好地界定与重复综合征相关癫痫的临床和电生理方面，并提供有关管理的实用指导。
