Case Report

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like Syndrome (MELAS): A Case Report, Presentation, and Management

Authors: Ilaben Bhagubhai Patel, MD, Mohamad Sidani, MD, MS, Roger Zoorob, MD, MPH

Abstract

Mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (MELAS) is a progressive neurodegenerative disorder frequently complicated by diabetes mellitus and sensory neuronal hearing loss. This syndrome tends to present initially with stroke-like symptoms. These strokes are nonvascular in nature and are linked to mitochondrial defect such as transient oxidative phosphorylation dysfunction, which in turn results in encephalopathy. The combination of lactic acidosis, multiple nonvascular strokes, encephalopathic psychosis, diabetes, and sensory neuronal hearing loss causes severe dysfunction leading to increased mental disabilities, physical disabilities, and eventually, death.


Key Points


* Mitochondrial encephalopathy with stroke-like syndrome (MELAS) is a progressive neurodegenerative disorder.


* MELAS strokes are nonvascular in nature.


* MELAS is an inheritable mitochondrial disease with mutation at A3243.


* MELAS is frequently complicated by diabetes and sensory neuronal hearing loss.

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