Mitochondrial Disease Masquerading as Recurrent Encephalopathy

Abstract A young male who was a diabetic presented with gradually progressive hearing loss, recurrent episodic behavioral abnormality, easy fatigability, proximal weakness, and seizures. The patient evaluated in detail to find out the etiology of encephalitis. serum autoimmune encephalitis panel negative. On magnetic resonance imaging Brain, there temporoparietal T2 fluid-attenuated inversion recovery hyperintensity. In spectroscopy study, lactate peak found. So, for mitochondrial illness encephalopathy lactic acidosis stroke-like symptoms) it confirmed by genetic study. This case illustrates that though is rare disease, always strong clinical index suspicion required diagnosis disorders multisystem involvement so would not be missed.