Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study

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.