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Updated: Jul 11, 2026
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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
[Mitochondrial neurogastrointestinal encephalomyopathy].
P Rousset1, M Elmaleh-Bergès, H Ogier de Baulny
1Service d'imagerie pédiatrique, hôpital Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France. rousset.pas@voila.fr
Journal of Neuroradiology = Journal De Neuroradiologie
|October 2, 2007
Summary
Mitochondrial Neurogastrointestinal Encephalomyopathy syndrome, a rare leukodystrophy, was identified in an adolescent female. MRI revealed key aspects of this condition, which caused severe emesis and cachexia.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) syndrome is a rare genetic disorder.
- It affects multiple organ systems, including the nervous and gastrointestinal tracts.
- Leukodystrophies are a group of inherited disorders affecting white matter of the brain.
Observation:
- An adolescent female presented with nocturnal recurrent emesis.
- This led to significant cachexia (severe weight loss and malnutrition).
- Magnetic Resonance Imaging (MRI) was utilized for investigation.
Findings:
- MRI demonstrated characteristic white matter abnormalities consistent with leukodystrophy.
- The findings were specifically linked to MNGIE syndrome.
- The imaging findings correlated with the patient's clinical presentation.
Implications:
- This case highlights the importance of MRI in diagnosing leukodystrophies associated with MNGIE.
- Early diagnosis can facilitate timely management and genetic counseling.
- Further research into MNGIE pathogenesis and treatment is warranted.
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