Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE. We report a case of a 21-year-old female with...
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| Language: | English |
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Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324013116 |
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| author | Maria Veatriki Christodoulou, MD, MSc Nikoletta Anagnostou, MD, MSc Anastasia K. Zikou, MD, PhD |
| author_facet | Maria Veatriki Christodoulou, MD, MSc Nikoletta Anagnostou, MD, MSc Anastasia K. Zikou, MD, PhD |
| author_sort | Maria Veatriki Christodoulou, MD, MSc |
| collection | DOAJ |
| description | Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE. We report a case of a 21-year-old female with MNGIE, presenting with cachexia and chronic diarrhea. Brain MRI revealed lesions in the cerebral deep white matter and the pons, with sparing of the subcortical U-fibers and the cerebral cortex and no apparent involvement of the cerebellum, basal ganglia, and thalamus. A literature review led to the identification of 72 additional cases with MNGIE that underwent brain MRI. Leukoencephalopathy of the cerebral white matter was present in all but 2 patients. The objective of this study is to increase radiologists' awareness of this challenging-to-diagnose disease, as well as to demonstrate the value of advanced MRI techniques in understanding the underlying pathology. The presence of leukoencephalopathy on brain MRI in patients with cachexia and neurological manifestations, should raise the suspicion for MNGIE and trigger further biochemical and genetic testing. |
| format | Article |
| id | doaj-art-ce2673f7f832499b9a64a355139c599a |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-ce2673f7f832499b9a64a355139c599a2025-01-18T05:03:53ZengElsevierRadiology Case Reports1930-04332025-03-0120312981305Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based reviewMaria Veatriki Christodoulou, MD, MSc0Nikoletta Anagnostou, MD, MSc1Anastasia K. Zikou, MD, PhD2Department of Radiology, Medical School, University of Ioannina, Stavros Niarchos Avenue, Ioannina 45500, GreeceDepartment of Radiology, Medical School, University of Ioannina, Stavros Niarchos Avenue, Ioannina 45500, GreeceCorresponding author.; Department of Radiology, Medical School, University of Ioannina, Stavros Niarchos Avenue, Ioannina 45500, GreeceMitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE. We report a case of a 21-year-old female with MNGIE, presenting with cachexia and chronic diarrhea. Brain MRI revealed lesions in the cerebral deep white matter and the pons, with sparing of the subcortical U-fibers and the cerebral cortex and no apparent involvement of the cerebellum, basal ganglia, and thalamus. A literature review led to the identification of 72 additional cases with MNGIE that underwent brain MRI. Leukoencephalopathy of the cerebral white matter was present in all but 2 patients. The objective of this study is to increase radiologists' awareness of this challenging-to-diagnose disease, as well as to demonstrate the value of advanced MRI techniques in understanding the underlying pathology. The presence of leukoencephalopathy on brain MRI in patients with cachexia and neurological manifestations, should raise the suspicion for MNGIE and trigger further biochemical and genetic testing.http://www.sciencedirect.com/science/article/pii/S1930043324013116Mitochondrial neurogastrointestinal encephalomyopathyMNGIETYMP mutationBrain MRILeukoencephalopathy |
| spellingShingle | Maria Veatriki Christodoulou, MD, MSc Nikoletta Anagnostou, MD, MSc Anastasia K. Zikou, MD, PhD Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review Radiology Case Reports Mitochondrial neurogastrointestinal encephalomyopathy MNGIE TYMP mutation Brain MRI Leukoencephalopathy |
| title | Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review |
| title_full | Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review |
| title_fullStr | Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review |
| title_full_unstemmed | Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review |
| title_short | Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review |
| title_sort | brain magnetic resonance imaging findings in mitochondrial neurogastrointestinal encephalomyopathy mngie a case based review |
| topic | Mitochondrial neurogastrointestinal encephalomyopathy MNGIE TYMP mutation Brain MRI Leukoencephalopathy |
| url | http://www.sciencedirect.com/science/article/pii/S1930043324013116 |
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