Isolated mitochondrial stroke-like episodes in an elderly patient with the MT-ND3 gene mutation

Abstract

Stroke-like episode represents a clinical hallmark of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are usually suspected based on clinical symptoms, such as lactic acidosis, deafness, diabetes, short stature, myopathy, and cognitive decline, often with a maternal inheritance pattern of family history. We describe an elderly woman with recurrent stroke-like episodes, who had only a faint concomitant signs, but no family history of mitochondrial disease. Sequence analysis of the mitochondrial genome extracted from biopsied muscle showed a heteroplasmic 10158T>C mutation in the mitochondrial complex I subunit gene, MT-ND3. This is the first adult-onset case harboring the m.10158T>C mutation, which is known to cause lethal infant-onset Leigh syndrome. The unique manifestations of sporadic, elderly-onset, and isolated stroke-like episodes suggest that it is an important differential diagnosis for ischemic stroke and extend the clinical and mutational spectrum of mitochondrial stroke-like episodes.