A Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy. Issue 5 (9th May 2022)

• Record Type: Journal Article
• Authors: Manski, Scott Adam; Adkins, Christopher; Smith, Colin; Blair, Brian
• Is Part Of: ACG Case Reports Journal. Volume 9:Issue 5(2022)
• Page Start: e00777
• Publication Date: 2022-05-09
• DOI: 10.14309/crj.0000000000000777
• Languages: English
• ISSNs: 2326-3253

Abstract

ABSTRACT: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease due to mutations in the thymidine phosphorylase gene, leading to mitochondrial alterations and dysfunctions in oxidative phosphorylation. MNGIE is a multisystem disorder with gastrointestinal symptoms arising in large part from gut dysmotility and neurological manifestations including peripheral neuropathy. We discuss a patient with chronic vomiting, diarrhea, and weight loss with a prior unrevealing extensive workup who was hospitalized for severe protein-calorie malnutrition. The patient was found to have gastrointestinal dysmotility on a gastric emptying scan and persistently elevated lactate levels and was subsequently diagnosed with MNGIE after confirmatory testing.