Author(s): Pramod Setty J1, Kiran Kumar Hegde S2, Sindu P. Gowdar3, Rajesh Venunath4, Kamran Siddiqui5
Krabbe disease, or globoid cell leukodystrophy, is a demyelinating disorder caused by a genetic deficiency of lysosomal enzyme galactocerebrosidase (GALC), a key component in metabolic pathways of myelin turnover and breakdown. The GALC gene maps to chromosome 14q24. 3 to 14q32. 1. The most frequent form of Krabbe disease has an infantile onset, whereas the late-onset form is rare. We present the MR imaging findings in a 5 month old male baby presenting with features of spastic paraplegia diagnosed biochemically as Krabbe Disease. Their MR images showed selective, increased signal intensity on T2- weighted sequences along the corticospinal tracts. Proton MR Spectroscopy showed increased choline and myo-inositol peaks in the affected white matter. The MR imaging pattern is characteristic and, in the appropriate clinical setting, may suggest the diagnosis.