Radboud Centre for Mitochondrial Medicine Pediatric MRI score

- The RCMM-PMRIS is user-friendly, semi-quantitative, and quick-to-perform.
- The RCMM-PMRIS has been validated through review of 30 sets of mitochondrial disease brain MRIs by six raters.
- The score can help to define and monitor radiological mitochondrial disease severity.

We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review of 30 sets of brain MRI studies in 24 patients with genetically confirmed mitochondrial disorders by six raters. The application of RCMM-PMRIS can help to define the extent of the brain involvement and therefore to assess the radiological mitochondrial disease severity, to monitor disease progression and consequently to act as an outcome measure for treatment effects in patients with mitochondrial disease.