Author:
Castilha-Neto Dimas,Fernandes Monteiro Letícia,Maccarini Peruchi Mirella,Moreno Filho João,Scarlatelli-Lima Aline Vieira,Lin Jaime
Abstract
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilaterally.
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