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Journal of Medical Case Reports

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Open Access 01-12-2022 | Stem Cell Transplantion | Case report

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report

Authors: Zaraq Rashid Khan, Alvina Karam, Mian Ayaz ul Haq, Aleena Aman, Ahmad Sharjeel Karam

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

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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Title: Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report
Authors: Zaraq Rashid Khan
Alvina Karam
Mian Ayaz ul Haq
Aleena Aman
Ahmad Sharjeel Karam
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Stem Cell Transplantion
Stem Cell Transplantation
Stem Cell Transplantation
Ophthalmoparesis
Encephalopathy
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-022-03582-6

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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