先天性糖基化障碍相关儿童癫痫的致痫机制与临床诊疗

doi:10.3877/cma.j.issn.1673-5250.2026.04.010

先天性糖基化障碍(CDG)是一组由蛋白质、脂质或糖基磷脂酰肌醇锚等糖基化过程异常所致的遗传性疾病，可通过影响机体神经发育、离子通道及受体功能、突触传递、细胞应激和神经炎症等多种途径参与癫痫发生。部分CDG相关癫痫可表现为早发、难治性癫痫性脑病，其发生可能与糖基化缺陷导致的神经元膜、信号通路、突触、结构及代谢等多维度紊乱有关，并常伴多系统受累。该病患儿多于新生儿期或婴儿期起病，患儿常表现为早发癫痫发作或癫痫性痉挛，并可合并发育迟缓、肌张力异常、喂养困难、肝功能异常、凝血功能异常、眼部疾病等使患儿多系统受累。近年研究发现，糖基化异常除可参与CDG相关癫痫发生过程外，癫痫发作相关的脑组织糖基化修饰水平改变，亦可能影响突触可塑性及局部神经环路稳定性。由于儿童脑网络仍处于发育和重塑阶段，上述改变可能与表型演变及长期神经发育结局相关，但目前直接临床证据仍较有限。笔者拟就CDG相关儿童癫痫的发病机制、年龄相关临床特征、诊断策略、病因导向治疗、长期管理及预后评估进行综述，旨在为临床对CDG相关儿童癫痫患儿的早期识别、分层诊疗和长期管理提供参考。

关键词: 糖基化, 先天性糖基化障碍, 癫痫, 抗惊厥药, 发病年龄, 表型, 临床方案, 儿童

Congenital disorders of glycosylation (CDG) are a group of inherited diseases caused by abnormalities in the glycosylation of proteins, lipids, or glycosylphosphatidylinositol anchors. CDG may contribute to epileptogenesis through multiple pathways, including impaired neurodevelopment, altered ion channel and receptor function, disrupted synaptic transmission, cellular stress, and neuroinflammation. Some CDG-related epilepsies may manifest as early-onset, drug-resistant developmental and epileptic encephalopathy (DEE). Their pathogenesis is thought to be associated with glycosylation defects that disrupt multiple cellular and molecular processes, including neuronal membrane integrity, signaling pathways, synaptic transmission, neurodevelopment, and metabolism, often accompanied by multisystem involvement. Recent studies have shown that glycosylation abnormalities may not only participate in the pathogenesis of CDG-related epilepsy, but seizure-related changes in glycosylation modifications in brain tissue may also affect synaptic plasticity and the stability of local neural circuits. As brain networks in children are still undergoing development and remodeling, these changes may be associated with phenotypic evolution and long-term neurodevelopmental outcomes; however, direct clinical evidence remains limited. This review summarizes the pathogenic mechanisms, age-related clinical features, diagnostic strategies, etiology-directed treatment, long-term management, and prognostic evaluation of CDG-related pediatric epilepsy, with the aim of providing a reference for clinicians in early recognition, stratified diagnosis and treatment, and long-term management of this condition.

Key words: Glycosylation, Congenital disorders of glycosylation, Epilepsy, Anticonvulsants, Age of onset, Phenotype, Clinical protocols, Child

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Epileptogenic mechanisms and clinical management of pediatric epilepsy associated with congenital disorders of glycosylation

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Epileptogenic mechanisms and clinical management of pediatric epilepsy associated with congenital disorders of glycosylation