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