Optic nerve enlargement in infantile form of Krabbe disease.
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.
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL);
Dimas
D
Castilha-Neto
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL);
Letícia Fernandes
LF
Monteiro
Department of Radiology, Hospital São João Batista;
Mirella Maccarini
MM
Peruchi
Department of Radiology, Hospital Nossa Senhora da Conceição, Brazil.
João Moreno
JM
Filho
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL);
Aline Vieira
AV
Scarlatelli-Lima
Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL);
Jaime
J
Lin
Krabbe disease; galactosylceramidase; globoid cell leukodystrophy; optic nerve enlargement; storage disorder.