Therapy Effects in Cerebral Folate Transport Deficiency with Hypomyelination Monitored by Multimodal Quantitative MR-Imaging

Myelin-sensitive quantitative (q) MRI techniques including MT (3D FLASH) and DTI (single-shot STEAM) are of growing importance to study white matter (WM) disorders in childhood. Cerebral folate transport deficiency is an inherited, treatable WM disorder with hypomyelination, developmental regression, movement disturbances, and epilepsy. One patient with this diagnosis and severe phenotype was treated with folinic acid. Concomitant serial qMRI study over 4.2 yrs indicated an advancement of myelination which was paralleled by clinical improvement. In contrast to structural MRI, MT saturation maps demonstrated striking contrast changes and detailed spatial resolution. It may provide a valuable parameter to monitor therapy effects.