Kimberly Kripps, Janell Kierstein, Daniel Nicklas, Julie Nelson, Michele Yang, Abigail Collins, Elizabeth Troy, Maria Escolar, John Maloney, Ilana Neuberger, Nicholas Stence, Peter R Baker
Krabbe disease is a progressive neurologic disorder caused by deficiency of the lysosomal enzyme galactocerebrosidase. The disease commonly has an early-infantile onset, but can have late-infantile, juvenile, or adult-onset phenotypes. Classic computed tomography (CT) and magnetic resonance imaging (MRI) findings in Krabbe have been well described. We report a patient, ultimately diagnosed with juvenile-onset Krabbe, who presented with atypical CT imaging and rapid disease progression. Our patient was a previously healthy and developmentally appropriate female who presented at 3 years 4 months of age with ataxia and motor regression that had progressed over the course of 6 weeks without an identifiable catalyst...
June 2, 2020: Journal of Child Neurology