Related Experiment Video
Updated: Aug 24, 2026
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy
William S Millar1, Angela Lignelli, Michio Hirano
1Department of Radiology, New York Presbyterian Hospital, Columbia-Presbyterian Center, 177 Fort Washington Avenue, Milstein Hospital Bldg., Rm. 3-105, New York, NY 10032, USA. wsm8@columbia.edu
Objective:
The purpose of this study was to retrospectively review MR images of the brain in five patients diagnosed with mitochondrial neurogastrointestinal encephalomyopathy.
Conclusion:
Our research supports previously reported findings of confluent abnormal cerebral white matter in patients with mitochondrial neurogastrointestinal encephalomyopathy. In contrast to prior studies, our cohort of five patients showed that involvement of the corpus callosum as well as the capsular white matter, basal ganglia, thalami, midbrain, pons, and cerebellar white matter is not rare and does not preclude the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.
Insights
Brain MRI in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) reveals widespread white matter abnormalities. These findings, including corpus callosum and basal ganglia involvement, are common and support the MNGIE diagnosis.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder.
- Previous studies have reported white matter abnormalities in MNGIE patients.
Purpose of the Study:
- To retrospectively review brain MR images of five patients diagnosed with MNGIE.
- To characterize the pattern of cerebral white matter involvement in MNGIE.
Main Methods:
- Retrospective review of brain MRI scans.
- Analysis of white matter abnormalities in five MNGIE patients.
Main Results:
- Confluent abnormal cerebral white matter was observed.
- Involvement of the corpus callosum, capsular white matter, basal ganglia, thalami, midbrain, pons, and cerebellar white matter was noted.
- These findings were not rare in the studied cohort.
Conclusions:
- The study supports previous findings of white matter abnormalities in MNGIE.
- Widespread white matter involvement, including specific brain regions, is common in MNGIE and does not exclude the diagnosis.
