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Radboud Centre for Mitochondrial Medicine Pediatric MRI score
Sheila Suet-Na Wong1, Bozena Goraj2, Cheuk-Wing Fung3
1Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong.
Abstract:
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.