Ahmed Nabil Abdelhalim MD, Presenter: Nothing to Disclose

Ronald Arthur Alberico MD, Abstract Co-Author: Nothing to Disclose

Rania Elmarzouky, Abstract Co-Author: Nothing to Disclose

Patricia Duffner MD, Abstract Co-Author: Nothing to Disclose

The purpose of this exhibit is: To review the initial MRI findings in patients with different phenotypes of Krabbe disease.  To learn how to classify different phenotypes based on MRI findings. To be aware how valuable MRI will be in predicting the phenotype in the newborn period to identify patients that will benifit fromhematopoietic cell transplantation.

Brief introduction about pathophysiology of Krabbe disease. Review of MRI findings in the 5 different phenotypes of Krabbe disese: including early infantile (onset 0-6 months), late infantile (onset 7-12 months), later onset (onset 13 months -10 years), adolescent (onset 11-20 years) and adult (onset >20 years). Identify the characteristic MRI findings of each phenotype. Show sample cases. Focus on Future directions of new born screening and role of early MRI imaging  

  Learn differences in MRI findings of Krabbe disease phenotypes, most notably that infants with early infantile Krabbe disease typically have involvement of the dentate and cerebellar white matter.  In contrast later onset Krabbe disease will show  extensive involvement of  parieto-occipital white matter, posterior corpus callosum and posterior internal capsule. Isolated corticospinal tract involvement is a charectristic finding in Adult onset disease.

Abdelhalim, A, Alberico, R, Elmarzouky, R, Duffner, P, MRI Findings in Krabbe Disease Patients Predict Phenotype: Results of the World-wide Krabbe Registry.  Radiological Society of North America 2013 Scientific Assembly and Annual Meeting, December 1 - December 6, 2013 ,Chicago IL. http://archive.rsna.org/2013/13020004.html