Abstract #1080

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

Steffi Dreha-Kulaczewski¹,², Robert Steinfeld³, Knut Brockmann¹, Peter Dechent², Jutta Grtner¹, Gunther Helms²

¹Department of Pediatrics and Pediatric Neurology, University Medical Center , Gttingen, Germany; ²Department of Cognitive Neurology, MR-Research in Neurology and Psychiatry, University Medical Center , Gttingen, Germany; ³Department of Pediatrics and Pediatric Neurology, University Medical Center, Gttingen, Germany

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.