Brain MRI Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy: A Case-Based Review
Author Information
Author(s): Christodoulou Maria Veatriki MD, MSc, Anagnostou Nikoletta MD, MSc, Zikou Anastasia K. MD, PhD
Primary Institution: Department of Radiology, Medical School, University of Ioannina, Greece
Hypothesis
The study aims to increase radiologists' awareness of MNGIE and demonstrate the value of advanced MRI techniques in understanding its pathology.
Conclusion
Leukoencephalopathy on brain MRI in patients with cachexia and neurological symptoms should raise suspicion for MNGIE and prompt further testing.
Supporting Evidence
- Leukoencephalopathy was present in all but 2 of the 72 reviewed cases.
- The patient presented with cachexia and chronic diarrhea, common symptoms of MNGIE.
- Advanced MRI techniques revealed specific brain lesions associated with MNGIE.
Takeaway
This study shows that a specific brain scan can help doctors find a rare disease called MNGIE, which affects the brain and stomach.
Methodology
A systematic literature search was performed to identify case reports and series on brain MRI findings in MNGIE.
Potential Biases
There may be publication bias as only published cases were included.
Limitations
The study is limited by the small number of cases and potential biases in the literature search.
Participant Demographics
The case study involved a 21-year-old female patient; the literature review included 72 additional cases with varying ages and genders.
Digital Object Identifier (DOI)
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