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Other mechanisms of MELAS are still under investigation. Symptoms. The majority of symptoms of MELAS involve the brain and muscles. More than 50% of patients have reported visual disturbances. The stroke-like episodes in MELAS contributes to the retrochiasmal visual loss, which can manifest as hemianopia, or cortical vision loss. Signs

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The patient was started on a continuous infusion of intravenous arginine and symptoms resolved within 72 hours. Mitochondrial DNA sequencing identified a 51% heteroplasmic mutation at m.3243A>G, the most common mutation associated with MELAS. Pathophysiology of MELAS. Stroke-like episodes are the typical presenting feature in …

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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an extremely rare genetic condition that begins in childhood. The disorder affects many areas of the body, especially the brain and nervous system (encephalo-) and muscles (myopathy). MELAS is also characterized by a buildup of lactic acid in the body (lactic acidosis) as …

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The age of the first clinical presentation of stroke-like episodes in MELAS is highly variable, but first episodes usually occur before the age of 40. Although MELAS is a rare disease, the present case illustrates that the clinical presentations and imaging findings may mimic stroke, the most common acute brain disease.

Introduction. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease that has a broad spectrum of manifestations, including stroke-like episodes, dementia, epilepsy, lactic acidosis, exercise intolerance, muscle weakness, migraine headaches, sensorineural …

2. CASE HISTORY. The patient was a 26‐year‐old Chinese man named JWH, 1 and he was not diagnosed with MELAS syndrome at first. He had initially presented to the general pediatric unit at fourteen years of age for prolonged fever with an altered mental status. 11 An electroencephalogram (EEG) showed ongoing seizures. He was then diagnosed to …

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A randomized double-blind, placebo-controlled, 3-year crossover trial of DCA in patients with MELAS had to be terminated because of DCA toxicity, consisting of peripheral neuropathy that overshadowed the assessment of potential benefit [37, Class II]. DCA has "orphan drug" status. It is used on a compassionate basis or as a part of research ...

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