Version 1
: Received: 25 April 2024 / Approved: 26 April 2024 / Online: 28 April 2024 (08:49:08 CEST)
How to cite:
Shah, S.; Shah, H.; Shah, N.; Patel, R.; Desai, D. Deciphering the Triad: A Singular Case Study of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes). Preprints2024, 2024041769. https://doi.org/10.20944/preprints202404.1769.v1
Shah, S.; Shah, H.; Shah, N.; Patel, R.; Desai, D. Deciphering the Triad: A Singular Case Study of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes). Preprints 2024, 2024041769. https://doi.org/10.20944/preprints202404.1769.v1
Shah, S.; Shah, H.; Shah, N.; Patel, R.; Desai, D. Deciphering the Triad: A Singular Case Study of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes). Preprints2024, 2024041769. https://doi.org/10.20944/preprints202404.1769.v1
APA Style
Shah, S., Shah, H., Shah, N., Patel, R., & Desai, D. (2024). Deciphering the Triad: A Singular Case Study of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes). Preprints. https://doi.org/10.20944/preprints202404.1769.v1
Chicago/Turabian Style
Shah, S., Rushit Patel and Dev Desai. 2024 "Deciphering the Triad: A Singular Case Study of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes)" Preprints. https://doi.org/10.20944/preprints202404.1769.v1
Abstract
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders.MELAS syndrome is a multi-organ disease that presents with a wide range of symptoms, such as dementia, epilepsy, lactic acidemia, myopathy, hearing loss, stroke-like episodes, diabetes, short stature, and myopathy. MELAS primarily affects tissue with high energy demands such as the brain, muscles, and heart. With 65–76% of affected people presenting at or before the age of 20, childhood is the typical age of onset. Genetic testing, imaging tests such as magnetic resonance imaging (MRI) scans, and other techniques, tests of blood, urine, and cerebrospinal fluid in addition to muscle biopsy (if necessary) may be used to diagnose MELAS syndrome. Management of MELAS remains largely supportive, focusing on symptom alleviation and metabolic stabilization. The long-term prognosis of MELAS is variable, influenced by factors such as age of onset, severity of symptoms, and presence of comorbidities. While some patients experience a relatively stable course with intermittent exacerbations, others may exhibit progressive neurological deterioration and multiorgan involvement. Early recognition, prompt intervention, and close monitoring are essential for optimizing outcomes and mitigating complications.Presenting here a case report of an occurrence of MELAS in a 31-year old male patient with chief complaints of perspiration, uneasiness and weight loss with increase in appetite and past history of bilateral hearing loss and vision loss in left eye.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
