PDF(Pubmed)
Abstract：
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. In a multinational, retrospective study with data on patients with POLG disease from seven European countries, we identified those who had SE. The age of SE onset, accompanying clinical, laboratory, imaging and genetic findings were analysed. One hundred and ninety-five patients with genetically confirmed POLG disease were recruited, of whom 67% (130/194) had epilepsy. SE was identified in 77% (97/126), with a median age of SE onset of 7 years. SE was the presenting symptom of the disease in 43% (40/93) of those with SE, while 57% (53/93) developed SE during the disease course. Convulsive SE was reported in 97% (91/94) followed by epilepsia partialis continua in 67% (56/84). Liver impairment 78% (74/95), ataxia 69% (60/87), stroke-like episodes 57% (50/88), were the major comorbidities. In the majority (66%; 57/86) with SE this became refractory or super-refractory. The presence of seizures was associated with significantly higher mortality compared to those without (P ≤ 0.001). The median time from SE debut to death was 5 months. SE is a major clinical feature of POLG disease in early and juvenile to adult-onset disease and can be the presenting feature or arise as part of a multisystem disease. It is associated with high morbidity and mortality, with the majority of patients with SE going on to develop refractory or super-refractory SE.
摘要：
我们的目的是在大量POLG病患者中提供癫痫持续状态（SE）的详细表型描述，并确定预后生物标志物以改善这种危及生命的疾病的管理。在跨国公司中，来自七个欧洲国家的POLG病患者的回顾性研究，我们确定了那些有SE的人。SE发病的年龄，伴随临床，实验室,对影像学和遗传学结果进行了分析.招募了一百九十五名基因证实的POLG疾病患者，其中67%（130/194）患有癫痫。在77%(97/126)中发现了SE，SE发病年龄中位数为7岁。在43%(40/93)的SE患者中，SE是该疾病的表现症状，而57%(53/93)的患者在病程中发展为SE。据报道，惊厥性SE占97％（91/94），其次是癫痫样持续发作占67％（56/84）。肝功能损害78%（74/95），共济失调69%(60/87)，中风样发作57%(50/88)，是主要的合并症。在大多数（66％；57/86）的SE中，这变成了耐火或超耐火。与没有癫痫发作的患者相比，癫痫发作的存在与死亡率显着升高相关（P≤0.001）。从SE首次亮相到死亡的中位时间为5个月。SE是POLG疾病早期和青少年至成人发病的主要临床特征，可以是多系统疾病的表现特征或一部分。它与高发病率和死亡率有关，大多数SE患者继续发展为难治性或超难治性SE。
