Meeting Banner
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.

Abstract PDF Poster PDF

Keywords

abated acid alterations although ameliorated anisotropy applied ascribed audience brain caused cerebral childhood clinical clinicians coded cognitive concomitant consequent contrast control controls correlation course courses currently deficiency detailed developmental diffusion disorder disorders distinct disturbances done enabled epilepsy evaluation features fields flash fluid fractional frontal gene gradient growing helms histogram histograms importance improve improvement include included indicated indicative infantile inhomogeneities initial insensitive intensity isotropic lacked late magnetization maps markers matched medical might mild mirror mode monitor monitored movement mutations neurology onset paralleled part partially patient patients peak pediatric pediatrics percent percentage peter phenotype predominant prevalent profound protocol psychiatry pulse qualitatively quantitative rage reached reaching receptor reduction reflected reflecting regression related report researcher resolution revealed saturation scanner sensitive serial severe shot significance slice space spatial steam striking studies subsequently subsided surrogate symptoms table target tensor therapeutic therapy towards transfer transport treatable treated trials trio underlying unit validate valuable variable volume white widespread zero