Acute Management of Neurological Events in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome: A Case Report

TL;DR

This case report describes the acute neurological management of an 18-year-old with MELAS syndrome, focusing on treatment strategies that improved symptoms like vision loss and seizures.

Contribution

The paper presents a novel case of MELAS syndrome management using arginine supplementation and dietary changes, showing clinical improvement.

Findings

Arginine supplementation, seizure medication optimization, and a high-fat diet led to improved vision and reduced seizures.

Elevated lactate levels normalized following treatment, indicating metabolic improvement.

Neuroimaging confirmed stroke-like episodes in the occipital and parietal lobes consistent with MELAS syndrome.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder characterized by recurrent stroke-like episodes, seizures, and progressive neurological decline. We presented the case of an 18-year-old female, diagnosed with MELAS syndrome at age 11, who presented with acute vision loss and seizures. Neuroimaging revealed acute infarcts in the occipital and parietal lobes, consistent with MELAS syndrome-related strokes. Elevated lactate levels confirmed metabolic dysfunction. Management included arginine supplementation, seizure medication optimization, and a high-fat, low-carbohydrate diet. The patient's vision improved, seizures subsided, and lactate levels normalized. This case highlights the importance of early recognition and a multidisciplinary approach in optimizing the metabolic and neurological management of MELAS syndrome.

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