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Title: Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Authors: Tawk, Antonios
Hussein Kamarreddine, Mohammed
Dagher, Mona
Abboud, Ghadi
Chams, Mohamad
Ghandour-Hajj, Fatmeh
Khoury, Mounir
Farhat, Said
Affiliations: Faculty of Medicine 
Faculty of Medicine 
Keywords: Gastroenterology
Genetic mutation
Mitochondrial dysfunction
Mitochondrial neurogastrointestinal encephalomyopathy
Issue Date: 2020
Part of: Case reports in gastroenterology
Volume: 14
Issue: 1
Start page: 124
End page: 130
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, therefore leading to the accumulation of thymidine and deoxyuridine in plasma and tissues. Thus, MNGIE can be diagnosed by findings of high levels of thymidine and deoxyuridine. Herein, we present the case of a 40-year-old male who presented with diarrhea, vomiting, and abdominal pain, severe weight loss, neurologic deficits, and distal motor weakness progressing over a period of 13 years. The combination of this broad clinical picture along with results of magnetic resonance imaging, electromyography, colonic biopsies, genetic testing, and elevated plasma and tissue thymidine and deoxyuridine levels confirmed the diagnosis of MNGIE. TYMP gene mutation impairs TP function. TP mutations in the nuclear DNA lead to mitochondrial DNA deletions causing mitochondrial failure and ultimately cell death. Treatment modalities are targeting the restoration of TP activity or aiming to decrease the high levels of thymidine and pyrimide. However, diagnosing this disease is still a challenge and often overdue. This patient's 13-year delay in diagnosis shows the importance of a complete neurological exam and muscle strength testing in patients with gastrointestinal symptoms. The diagnosis of MNGIE requires interdepartmental collaborative work for diagnosis delay prevention and for optimal patient care.
ISSN: 1662-0631
DOI: 10.1159/000506187
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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