Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Audrey A M VollebregtBerendine J EbbinkDimitris RizopoulosMaarten H LequinFemke K AarsenElsa G ShapiroAns T van der PloegJohanna M P van den HoutPublished in: Journal of inherited metabolic disease (2021)
In our cohort, brain atrophy showed a stronger correlation to a decline in CAS when compared to WMA. Atrophy-scores were higher in young neuronopathic patients than in non-neuronopathic patients and atrophy was an important early sign for the development of the neuronopathic phenotype, especially when observed jointly with white-matter abnormalities.