Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn’s Disease: A Rare Cause of Malnutrition

Authors

  • Lenka Kučerová Department of Gastroenterology, University Hospital Bohunice, Brno
  • Jiří Dolina Department of Gastroenterology, University Hospital Bohunice, Brno
  • Milan Dastych Department of Gastroenterology, University Hospital Bohunice, Brno
  • Daniel Bartušek Department of Radiology, University Hospital Bohunice, Brno
  • Tomáš Honzík Department of Pediatrics and Adolescent Medicine, General University Hospital, Prague
  • Jan Mazanec Department of Pathology, University Hospital Bohunice, Brno
  • Lumír Kunovský Department of Gastroenterology, University Hospital Bohunice, Brno; Department of Surgery, University Hospital Bohunice, Brno, Czech Republic

DOI:

https://doi.org/10.15403/jgld.2014.1121.273.kuc

Keywords:

Genetic disease, MNGIE, thymidine phosphorylase, malnutrition, neuropathy, Crohn‘s disease, anorexia nervosa

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene encoding thymidine phosphorylase. MNGIE causes gastrointestinal and neurological symptoms in homozygous individuals and is often misdiagnosed as anorexia nervosa, inflammatory bowel disease, or celiac disease. We present the case of a 26-year-old female with MNGIE, who was initially diagnosed with anorexia nervosa and Crohn’s disease. The diagnosis of MNGIE was established by biochemical confirmation of elevated serum and urine thymidine and deoxyuridine levels after multiple examinations and several years of disease progression and ineffective treatment. Subsequent molecular genetic testing demonstrated a homozygous TYMP gene mutation. MNGIE should be considered in patients with unexplained malnutrition, intestinal dysmotility, and atypical neurological symptoms.

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Published

2018-09-30

How to Cite

1.
Kučerová L, Dolina J, Dastych M, Bartušek D, Honzík T, Mazanec J, Kunovský L. Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn’s Disease: A Rare Cause of Malnutrition. JGLD [Internet]. 2018 Sep. 30 [cited 2025 Jul. 1];27(3):321-5. Available from: https://www.jgld.ro/jgld/index.php/jgld/article/view/71

Issue

Section

Case Reports