%0 Journal Article
%T Optic nerve enlargement in infantile form of Krabbe disease
%A Dimas Castilha-Neto
%A Letšªcia Fernandes Monteiro
%A Mirella Maccarini Peruchi
%A Jo£¿o Moreno Filho
%J Clinics and Practice
%D 2012
%I PAGEPress Publications
%R 10.4081/cp.2012.e81
%X 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.
%K Krabbe disease
%K globoid cell leukodystrophy
%K optic nerve enlargement
%K galactosylceramidase
%K storage disorder.
%U http://www.clinicsandpractice.org/index.php/cp/article/view/529