NDLI: Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease

Content Provider	Springer Nature : BioMed Central
Author	Patel, Ravi Coulter, Lucia Lee Rimmer, Joanna Parkes, Miles Chinnery, Patrick Francis Swift, Oscar
Abstract	Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters, initially managed for Crohn’s disease based upon clinical, imaging and pathological findings, were later found to have MNGIE. The cases provide novel clinicopathological insight, for two further reasons: both sisters remain ambulant and in employment in their late 20s and 30s; diagnosis in one sister was made after a suspected azathioprine-precipitated acute illness. Case presentation A 25-year-old female presented with diarrhoea, vomiting, abdominal pain, and bloating. Faecal calprotectin, colonic biopsies and magnetic resonance enterography were consistent with a diagnosis of Crohn’s disease. Azathioprine initiation preceded admission with a sore throat, headache, myalgia, and pyrexia. Withdrawal led to rapid clinical improvement. MRI brain revealed persistent, extensive white matter changes. Elevated plasma and urine thymidine and deoxyuridine, and genetic testing for TYMP variants, confirmed MNGIE. Testing of the patient’s sister, also diagnosed with Crohn’s disease, revealed identical variants. In this context, retrospective review of colonic biopsies identified histological findings suggestive of MNGIE. Conclusions Azathioprine interference in nucleic acid metabolism may interact with the mitochondrial DNA depletion of MNGIE. Nucleotide supplementation, proposed for treatment by manipulating mitochondrial nucleoside pools, may require caution. The late onset and mild phenotype observed confirms presentation can occur later in life, and may reflect residual thymidine phosphorylase activity. Clinicians should consider measuring plasma thymidine levels in suspected Crohn’s disease to rule out MNGIE, particularly if white matter abnormalities are identified on neuroimaging.
Related Links	https://bmcgastroenterol.biomedcentral.com/counter/pdf/10.1186/s12876-018-0925-5.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
DOI	10.1186/s12876-018-0925-5
Journal	BMC Gastroenterology
Issue Number	1
Volume Number	19
Language	English
Publisher	BioMed Central
Publisher Date	2019-01-15
Access Restriction	Open
Subject Keyword	Gastroenterology Internal Medicine Hepatology Crohn’s disease Mitochondrial neurogastrointestinal encephalopathy Azathioprine Inflammatory bowel disease Inherited mitochondrial disorders Thymidine phosphorylase Leukoencephalopathy
Content Type	Text
Resource Type	Case study
Subject	Gastroenterology
Journal Impact Factor	2.5/2023
5-Year Journal Impact Factor	2.7/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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