Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients-ten years of experience in a single center
作者机构：Department of Pediatricsthe First Center of General Hospital of the People’s Liberation ArmyFuxing RoadHaidian DistrictBeijing100853No 28China
出 版 物：《Acta Epileptologica》 (癫痫学报（英文）)
年 卷 期：2024年第7卷第3期
页 面：215-227页
基 金：National Key Research and Development Program of China(2022YFC2703602)
主 题：Gaucher disease Neuronopathic Electroencephalogram Epilepsy Anti-seizure medication Enzyme replacement therapy
摘 要：Background 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 *** A retrospective analysis was conducted on 74 EEG recordings from 50 GD patients between January 2012 and July *** Twenty-three patients exhibited abnormal EEG recordings,including 11 of the GD1 type(the transitional type)and 12 with neuronopathic *** the 12 neuronopathic GD patients,9 patients with epilepsy were analysed specifically in terms of the clinical *** primary waveform observed in the neuronopathic EEG recordings was the spike-and-wave complex(SWC)during both awake and sleep *** 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 *** patients with an epileptic EEG pattern reported their initial seizures years *** in the neuronopathic patients were effectively controlled with anti-seizure medications(ASMs),despite the ongoing presence of abnormal EEG *** EEG patterns during ocular symptoms were characterized by sporadic or continuous unilateral SWC during *** Patients with neuronopathic GD exhibit distinct EEG patterns that can help differentiate them from GD1 *** treatment with ASMs can effectively control *** plays a crucial role in monitoring seizures and can facilitate prompt intervention for GD patients.
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