MELAS with multiple stroke-like episodes due to the variant m.13513G>A in MT-ND5.

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by metabolic stroke, seizures, cognitive decline, lactic acidosis, ragged-red fibers, headache, and vomiting, and in 80% of cases due to the mtDNA variant m.3243A>G. We report the case of a MELAS patient carrying a variant in subunit-5 of the respiratory chain (MT-ND5), rarely reported in MELAS. The patient is a 33-year-old male, who experienced a series of stroke-like episodes (StLEs) since age 23 years, which manifested clinically as seizures transient sensory disturbances, weakness, and visual or cognitive impairment. Over 9 years, these StLEs were misinterpreted as ischemic strokes, respectively, as cerebral vasculitis. He presented with mild, recurrent elevations of the creatine kinase. Initially, anti-seizure drugs and steroids appeared to be beneficial. Despite good recovery of each single StLE, the patient experienced a progressive decline of cognitive functions and activities of daily living. Cerebral imaging showed corresponding stroke-like lesions in changing locations. At age 32y, genetic work-up revealed the variant m.13513G>A in MT-ND5. The patient profited significantly from a cocktail with anti-oxidants/cofactors. This case shows that the variant m.13513G>A in MT-ND5 can manifest as MELAS that StLEs recover spontaneously and that the course of MELAS is slowly progressive.