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Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History

This case reports a 53-year-old Caucasian female previously diagnosed with viral encephalitis and Fahr's Syndrome who presented with altered mental status. Shortly after arrival, she displayed severe lactic acidosis and was transferred to the intensive care unit (ICU), where she had a brief sei...

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Autores principales: Kamath, Shiwani, Duggal, Neel A, Ulhaque, Abid, Taylor, Elliott, Desai, Parth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869280/
https://www.ncbi.nlm.nih.gov/pubmed/35228955
http://dx.doi.org/10.7759/cureus.21597
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author Kamath, Shiwani
Duggal, Neel A
Ulhaque, Abid
Taylor, Elliott
Desai, Parth
author_facet Kamath, Shiwani
Duggal, Neel A
Ulhaque, Abid
Taylor, Elliott
Desai, Parth
author_sort Kamath, Shiwani
collection PubMed
description This case reports a 53-year-old Caucasian female previously diagnosed with viral encephalitis and Fahr's Syndrome who presented with altered mental status. Shortly after arrival, she displayed severe lactic acidosis and was transferred to the intensive care unit (ICU), where she had a brief seizure. Neurological workup was performed including carotid ultrasound, magnetic resonance angiography (MRA) brain, and computed tomography (CT) angiogram of the neck, all of which were unremarkable. Initial magnetic resonance imaging (MRI) performed showed small, acute ischemic foci in the bilateral occipital lobes and medial left thalamus. Subsequent diffusion-weighted imaging (DWI) MRI of the bilateral occipital lobes showed vasogenic edema, a common finding in Mitochondrial Encephalopathy, Lactic Acid, and Stroke-like episodes (MELAS). The patient was given Levetiracetam and managed supportively. She was progressively extubated and her seizure symptoms and lactic acidosis resolved. Our case represents a unique case in which a patient with non-contributory family history is first diagnosed with MELAS after age 40 after her symptoms were initially attributed to other pathologies. 
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spelling pubmed-88692802022-02-27 Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History Kamath, Shiwani Duggal, Neel A Ulhaque, Abid Taylor, Elliott Desai, Parth Cureus Genetics This case reports a 53-year-old Caucasian female previously diagnosed with viral encephalitis and Fahr's Syndrome who presented with altered mental status. Shortly after arrival, she displayed severe lactic acidosis and was transferred to the intensive care unit (ICU), where she had a brief seizure. Neurological workup was performed including carotid ultrasound, magnetic resonance angiography (MRA) brain, and computed tomography (CT) angiogram of the neck, all of which were unremarkable. Initial magnetic resonance imaging (MRI) performed showed small, acute ischemic foci in the bilateral occipital lobes and medial left thalamus. Subsequent diffusion-weighted imaging (DWI) MRI of the bilateral occipital lobes showed vasogenic edema, a common finding in Mitochondrial Encephalopathy, Lactic Acid, and Stroke-like episodes (MELAS). The patient was given Levetiracetam and managed supportively. She was progressively extubated and her seizure symptoms and lactic acidosis resolved. Our case represents a unique case in which a patient with non-contributory family history is first diagnosed with MELAS after age 40 after her symptoms were initially attributed to other pathologies.  Cureus 2022-01-25 /pmc/articles/PMC8869280/ /pubmed/35228955 http://dx.doi.org/10.7759/cureus.21597 Text en Copyright © 2022, Kamath et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Kamath, Shiwani
Duggal, Neel A
Ulhaque, Abid
Taylor, Elliott
Desai, Parth
Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title_full Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title_fullStr Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title_full_unstemmed Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title_short Adult-Onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) in a Patient Without Significant Family History
title_sort adult-onset mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (melas) in a patient without significant family history
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869280/
https://www.ncbi.nlm.nih.gov/pubmed/35228955
http://dx.doi.org/10.7759/cureus.21597
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