Yang Xiying, Meng Yan, Chen Jian, Lu Qian, Hu Linyan, Shi Xiuyu, Wang Jing, Yang Guang, Zou Liping
Department of Pediatrics, the First Center of General Hospital of the People's Liberation Army, Fuxing Road, Haidian District, Beijing, 100853, No 28, China.
Acta Epileptol. 2024 Sep 1;6(1):30. doi: 10.1186/s42494-024-00168-1.
This study aimed to investigate the unique electroencephalography (EEG) patterns in neuronopathic Gaucher disease (GD) patients and explore the correlations between EEG findings and neurological phenotypes so as to optimize clinical outcomes.
A retrospective analysis was conducted on 74 EEG recordings from 50 GD patients between January 2012 and July 2022.
Twenty-three patients exhibited abnormal EEG recordings, including 11 of the GD1 type (the transitional type) and 12 with neuronopathic GD. Of the 12 neuronopathic GD patients, 9 patients with epilepsy were analysed specifically in terms of the clinical course. The primary waveform observed in the neuronopathic EEG recordings was the spike-and-wave complex (SWC) during both awake and sleep states. This was significantly different from sharp waves observed only during sleep in the patients of the transitional type (P = 0.0230). The abnormal discharges in the neuronopathic patients were most commonly located in the bilateral Rolandic areas, while the transitional type commonly involved the bilateral frontal regions. Three patients with an epileptic EEG pattern reported their initial seizures years later. Seizures in the neuronopathic patients were effectively controlled with anti-seizure medications (ASMs), despite the ongoing presence of abnormal EEG patterns. The EEG patterns during ocular symptoms were characterized by sporadic or continuous unilateral SWC during sleep.
Patients with neuronopathic GD exhibit distinct EEG patterns that can help differentiate them from GD1 patients. Early treatment with ASMs can effectively control seizures. EEG plays a crucial role in monitoring seizures and can facilitate prompt intervention for GD patients.
本研究旨在调查神经病变型戈谢病（GD）患者独特的脑电图（EEG）模式，并探讨EEG结果与神经表型之间的相关性，以优化临床结局。
对2012年1月至2022年7月期间50例GD患者的74份EEG记录进行回顾性分析。
23例患者EEG记录异常，其中11例为GD1型（过渡型），12例为神经病变型GD。在12例神经病变型GD患者中，对9例癫痫患者的临床病程进行了具体分析。神经病变型EEG记录中观察到的主要波形是清醒和睡眠状态下的棘慢复合波（SWC）。这与过渡型患者仅在睡眠期间观察到的尖波有显著差异（P = 0.0230）。神经病变型患者的异常放电最常见于双侧中央前回区域，而过渡型通常累及双侧额叶区域。3例有癫痫EEG模式的患者在数年后报告了首次发作。尽管EEG模式持续异常，但神经病变型患者的癫痫发作通过抗癫痫药物（ASM）得到有效控制。眼部症状期间的EEG模式特征是睡眠期间散在或持续的单侧SWC。
神经病变型GD患者表现出独特的EEG模式，有助于将他们与GD1患者区分开来。ASM早期治疗可有效控制癫痫发作。EEG在监测癫痫发作中起关键作用，可促进对GD患者的及时干预。
