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Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report

(1) Introduction: Symptom spectrum can be of great diversity and heterogeneity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients in clinical practice. Here, we report a case of MELAS presenting asymptomatic refractory hypotension with m.3243 A>G mutati...

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Autores principales: Wang, Youjie, Zhang, Enhui, Ye, Chen, Wu, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377322/
https://www.ncbi.nlm.nih.gov/pubmed/37509011
http://dx.doi.org/10.3390/brainsci13071080
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author Wang, Youjie
Zhang, Enhui
Ye, Chen
Wu, Bo
author_facet Wang, Youjie
Zhang, Enhui
Ye, Chen
Wu, Bo
author_sort Wang, Youjie
collection PubMed
description (1) Introduction: Symptom spectrum can be of great diversity and heterogeneity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients in clinical practice. Here, we report a case of MELAS presenting asymptomatic refractory hypotension with m.3243 A>G mutation. (2) Case representation: A 51-year-old male patient presented with a headache, vertigo, and difficulty in expression and understanding. The magnetic resonance imaging of the brain revealed an acute stroke-like lesion involving the left temporoparietal lobe. A definitive diagnosis of MELAS was given after the genetic test identified the chrM-3243 A>G mutation. The patient suffered recurrent stroke-like episodes in the 1-year follow-up. Notably, refractory hypotension was observed during hospitalizations, and no significant improvement in blood pressure was found after continuous use of vasopressor drugs and fluid infusion therapy. (3) Conclusions: We report a case of refractory hypotension which was unresponsive to fluid infusion therapy found in a patient with MELAS. Our case suggests that comprehensive management should be paid attention to during treatment. A further study on the pathological mechanism of the multisystem symptoms in MELAS would be beneficial to the treatment of patients.
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spelling pubmed-103773222023-07-29 Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report Wang, Youjie Zhang, Enhui Ye, Chen Wu, Bo Brain Sci Case Report (1) Introduction: Symptom spectrum can be of great diversity and heterogeneity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients in clinical practice. Here, we report a case of MELAS presenting asymptomatic refractory hypotension with m.3243 A>G mutation. (2) Case representation: A 51-year-old male patient presented with a headache, vertigo, and difficulty in expression and understanding. The magnetic resonance imaging of the brain revealed an acute stroke-like lesion involving the left temporoparietal lobe. A definitive diagnosis of MELAS was given after the genetic test identified the chrM-3243 A>G mutation. The patient suffered recurrent stroke-like episodes in the 1-year follow-up. Notably, refractory hypotension was observed during hospitalizations, and no significant improvement in blood pressure was found after continuous use of vasopressor drugs and fluid infusion therapy. (3) Conclusions: We report a case of refractory hypotension which was unresponsive to fluid infusion therapy found in a patient with MELAS. Our case suggests that comprehensive management should be paid attention to during treatment. A further study on the pathological mechanism of the multisystem symptoms in MELAS would be beneficial to the treatment of patients. MDPI 2023-07-17 /pmc/articles/PMC10377322/ /pubmed/37509011 http://dx.doi.org/10.3390/brainsci13071080 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Wang, Youjie
Zhang, Enhui
Ye, Chen
Wu, Bo
Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title_full Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title_fullStr Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title_full_unstemmed Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title_short Refractory Hypotension in a Late-Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Male with m.3243 A>G Mutation: A Case Report
title_sort refractory hypotension in a late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (melas) male with m.3243 a>g mutation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377322/
https://www.ncbi.nlm.nih.gov/pubmed/37509011
http://dx.doi.org/10.3390/brainsci13071080
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