Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome

Cerebral infarction is a known complication in patients with mitochondrial encephalomyopathies (MELAS, MERRF, Kearns-Sayre syndrome), but the etiology in the different types remains uncertain.

A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome. The diagnosis was confirmed by muscle biopsy when she was 17 years old. A pacemaker was implanted because of the occurrence of bradyarrhythmias when she was 24 years old. The patient was admitted to the hospital with left-sided hemiparesis of sudden onset due to right striatocapsular infarction. Results of Doppler sonography of the carotid arteries were normal; however, transesophageal echocardiography revealed a thrombus in the left atrial appendage.

Stroke in Kearns-Sayre syndrome is likely to be due to cardiac embolism. Anticoagulant therapy should be considered even for mild forms of cardiomyopathies leading to left ventricular dysfunction.