Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Case contributed by Yaïr Glick


Established diagnosis of MNGIE - for follow-up.

Patient Data

Age: 16 years
Gender: Male

Abnormal high signal on T2W/FLAIR sequences in the bilateral periventricular and frontoparietal subcortical white matter - only slightly more extensive compared to previous MRI from 2 years earlier (not shown).
Preserved basal ganglia structure and signal.
No evidence of diffusion restriction or blood products.
No pathological enhancement after Gadolinium injection.
Normal-appearing ventricles, cisterns, and sulci.

Case Discussion

Diagnosed with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) three years earlier - at first, clinical and laboratory (thymidine phosphorylase deficiency) diagnosis, then later on, genetic confirmation. The disease manifested as weakness, headaches, vomiting, and episodes of consciousness loss. Normal cognition.

Of note, the leukoencephalopathy seen in this MRI study is mild in comparison to most published cases.

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