Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.
Magali RaveneauLéa Guerrini-RousseauRaphael LevyCharles-Joris RouxStéphanie BolleFrançois DozFranck BourdeautChrystelle ColasThomas BlauwblommeKevin BeccariaArnault Tauziède-EspariatPascale VarletChristelle DufourJacques GrillNathalie BoddaertVolodia Dangouloff-RosPublished in: European radiology (2024)
Using imaging to detect CMMRD syndrome early may improve patient care. CMMRD features include: hemispheric HGG with multiple developmental venous anomalies and NF1-like or subcortical areas with high T2-FLAIR intensity. We propose novel imaging features to improve the identification of potential CMMRD patients.
Keyphrases
- high grade
- end stage renal disease
- high resolution
- ejection fraction
- white matter
- chronic kidney disease
- newly diagnosed
- case report
- signaling pathway
- prognostic factors
- peritoneal dialysis
- oxidative stress
- lps induced
- multiple sclerosis
- magnetic resonance
- patient reported outcomes
- mass spectrometry
- immune response
- resting state
- risk assessment
- diffusion weighted imaging
- subarachnoid hemorrhage
- toll like receptor