• Cornelia Laule, Irene M Vavasour, Elham Shahinfard, Burkhard Mädler, Jing Zhang, Li David K B DKB Department of Radiology, University of British Columbia, Vancouver, Canada. Department , Alex L MacKay, and Sandra M Sirrs.
• Department of Radiology, University of British Columbia, Vancouver, Canada.
• J Neuroimaging. 2018 May 1; 28 (3): 252-255.

Background And PurposeLate-onset adult Krabbe disease is a very rare demyelinating leukodystrophy, affecting less than 1 in a million people. Hematopoietic stem cell transplantation (HSCT) strategies can stop the accumulation of toxic metabolites that damage myelin-producing cells. We used quantitative advanced imaging metrics to longitudinally assess the impact of HSCT on brain abnormalities in adult-onset Krabbe disease.MethodsA 42-year-old female with late-onset Krabbe disease and an age/sex-matched healthy control underwent annual 3T MRI (baseline was immediately prior to HSCT for the Krabbe subject). Imaging included conventional scans, myelin water imaging, diffusion tensor imaging, and magnetic resonance spectroscopy.ResultsBrain abnormalities far beyond those visible on conventional imaging were detected, suggesting a global pathological process occurs in Krabbe disease with adult-onset etiology, with myelin being more affected than axons, and evidence of wide-spread gliosis. After HSCT, our patient showed clinical stability in all measures, as well as improvement in gait, dysarthria, and pseudobulbar affect at 7.5 years post-transplant. No MRI evidence of worsening demyelination and axonal loss was observed up to 4 years post-allograft.ConclusionsClinical evidence and stability of advanced MR measures related to myelin and axons supports HSCT as an effective treatment strategy for stopping progression associated with late-onset Krabbe disease.Copyright © 2018 by the American Society of Neuroimaging.

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