Mickelsson Nora, Hirvonen Jussi, Martikainen Mika H
Clinical Neurosciences, Department of Clinical Medicine, University of Turku, Turku, Finland.
Neurocenter, Turku University Hospital, Turku, Finland.
J Neurol. 2024 Dec 12;272(1):47. doi: 10.1007/s00415-024-12745-y.
Stroke-like episode (SLE) is a subacute evolving brain syndrome in patients with primary mitochondrial diseases. Despite previous research, the understanding of the clinical spectrum, treatment, and outcomes of mitochondrial SLEs is far from complete. In this single centre study, we report the clinical symptoms and radiological findings as well as the medical treatment and outcomes of SLEs in patients with mitochondrial disease.
This retrospective, observational study during years 2000-2023 was based on a cohort of patients diagnosed with mitochondrial disease at Turku University Hospital (TUH; Turku, Finland) in the region of Southwest Finland. Data were obtained from the hospital electronic medical record system.
The investigated cohort consisted of 76 patients (37 men, 39 women) with a diagnosis of mitochondrial disease. Among these, 12 patients had a history of at least one SLE; the total number of SLEs was 20. The most common genetic aetiology among patients with SLEs was m.3243A > G (N = 7). The mean age at first SLE was 40 years (range: 5-66 years), and the mean interval between episodes was 4.8 years (range: 4 months-10 years). The duration of episodes varied between 1 and 193 days (median 14 days, mean 37 days); 10 patients needed intensive care unit (ICU) treatment. The mean survival time between the first SLE and death was 3.6 years (range: 0-16 years).
Our study highlights the importance of early recognition and prompt management of SLE symptoms, especially epileptic seizures, in this life-threatening entity.
类卒中发作（SLE）是原发性线粒体疾病患者中的一种亚急性进展性脑综合征。尽管此前已有研究，但对线粒体SLE的临床谱、治疗及预后的了解仍远未完善。在这项单中心研究中，我们报告了线粒体疾病患者SLE的临床症状、影像学表现以及药物治疗和预后情况。
这项2000年至2023年期间的回顾性观察性研究基于芬兰西南部图尔库大学医院（TUH；芬兰图尔库）诊断为线粒体疾病的一组患者。数据从医院电子病历系统获取。
研究队列包括76例诊断为线粒体疾病的患者（37例男性，39例女性）。其中，12例患者有至少一次SLE病史；SLE总数为20次。SLE患者中最常见的遗传病因是m.3243A > G（N = 7）。首次SLE发作的平均年龄为40岁（范围：5 - 66岁），发作间隔的平均时间为4.8年（范围：4个月 - 10年）。发作持续时间在1至193天之间（中位数14天，平均37天）；10例患者需要重症监护病房（ICU）治疗。首次SLE发作至死亡之间的平均生存时间为3.6年（范围：0 - 16年）。
我们的研究强调了在这种危及生命的疾病中，早期识别和及时处理SLE症状，尤其是癫痫发作的重要性。
