MRI EVALUATION OF A CASE OF KRABBE DISEASE
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 10
Abstract
: 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.
Authors and Affiliations
Pramod Setty J, Kiran Kumar Hegde S, Sindu P. Gowdar, Rajesh Venunath, Kamran Siddiqui
Keywords
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- EP ID EP226362
- DOI 10.18410/jebmh/2015/220
- Views 81
- Downloads 0
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