PMC9676446_01
Axial FLAIR (A-C) and T2-weighted (D-F) MR images showing bilateral hyperintensities and edema in the basal ganglia. Diffuse leukoencephalopathy is visible with hyperintensities of the periventricular, subcortical, and deep white matter, including the pons and white matter of the cerebellum. There is no pathological imbibition of contrast or diffusion restriction.
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F1
There was no pathological imbibition of contrast or diffusion restriction (Figure 1).
The patient's (arrow) pedigree.
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F2
Genetic testing of the family members revealed MNGIE in one sibling, while the another sibling was a carrier (Figure 2).
PMC9676446_02
Timeline of interventions and outcomes.
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F3
Despite poor initial prognosis, the patient is currently 43 years old and has been on home parenteral nutrition for more than 6 years with acceptable quality of life (Figure 3).