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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a...

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Autores principales: Khan, Zaraq Rashid, Karam, Alvina, ul Haq, Mian Ayaz, Aman, Aleena, Karam, Ahmad Sharjeel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528126/
https://www.ncbi.nlm.nih.gov/pubmed/36192783
http://dx.doi.org/10.1186/s13256-022-03582-6
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author Khan, Zaraq Rashid
Karam, Alvina
ul Haq, Mian Ayaz
Aman, Aleena
Karam, Ahmad Sharjeel
author_facet Khan, Zaraq Rashid
Karam, Alvina
ul Haq, Mian Ayaz
Aman, Aleena
Karam, Ahmad Sharjeel
author_sort Khan, Zaraq Rashid
collection PubMed
description BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. CASE PRESENTATION: We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. CONCLUSIONS: As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.
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spelling pubmed-95281262022-10-04 Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report  Khan, Zaraq Rashid Karam, Alvina ul Haq, Mian Ayaz Aman, Aleena Karam, Ahmad Sharjeel J Med Case Rep Case Report BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. CASE PRESENTATION: We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. CONCLUSIONS: As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy. BioMed Central 2022-10-03 /pmc/articles/PMC9528126/ /pubmed/36192783 http://dx.doi.org/10.1186/s13256-022-03582-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Khan, Zaraq Rashid
Karam, Alvina
ul Haq, Mian Ayaz
Aman, Aleena
Karam, Ahmad Sharjeel
Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title_full Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title_fullStr Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title_full_unstemmed Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title_short Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
title_sort mitochondrial neurogastrointestinal encephalomyopathy in a pakistani female: a case report 
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528126/
https://www.ncbi.nlm.nih.gov/pubmed/36192783
http://dx.doi.org/10.1186/s13256-022-03582-6
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