Recurrent episodes of seizure, unexplained decreased level of consciousness and associated with lactic acidosis, overall suggestive of mitochondrial disease. MELAS was confirmed by genetic testing. 

MELAS is characterized by reoccurring stroke-resembling events, in non-vascular territories, which are assumed to be secondary to mitochondrial dysfunction. After several events, we noticed a rapidly progressing brain atrophy.

Our patient also had diabetic mellitus, which can be well explained by mitochondrial dysfunction.

The possibility of MELAS should be addressed in the differential diagnosis of acute strokes in young patients, especially if the pattern doesn’t follow the typical vascular territories and/or the vascular imaging is unremarkable.

With courtesy of Dr. Christine Saint-Martin, Associate Professor in Neuroradiology and Pediatric Radiology at McGill University.