Abstract

Background Stroke-like episode (SLE) is a subacute evolving brain syndrome in patients with primary mitochondrialdiseases. 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 asthe medical treatment and outcomes of SLEs in patients with mitochondrial disease.

Methods This retrospective, observational study during years 2000–2023 was based on a cohort of patients diagnosed withmitochondrial disease at Turku University Hospital (TUH; Turku, Finland) in the region of Southwest Finland. Data wereobtained from the hospital electronic medical record system.

Results 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 geneticaetiology 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 between1 and 193 days (median 14 days, mean 37 days); 10 patients needed intensive care unit (ICU) treatment. The mean survivaltime between the first SLE and death was 3.6 years (range: 0–16 years).

Conclusion Our study highlights the importance of early recognition and prompt management of SLE symptoms, especiallyepileptic seizures, in this life-threatening entity.