Optic nerve enlargement in infantile form of Krabbe disease

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.

Keywords

• Krabbe disease
• globoid cell leukodystrophy
• optic nerve enlargement
• galactosylceramidase
• storage disorder.