SA Journal of Radiology
versão On-line ISSN 2078-6778
versão impressa ISSN 1027-202X
KALOIANOVA, Maria; NAIDOO, Jaishree; THOMSON, Heather e BHENGU, Louisa. Krabbe disease - An unusual presentation of optic nerve enlargement. S. Afr. J. radiol. (Online) [online]. 2015, vol.19, n.2, pp.1-4. ISSN 2078-6778. http://dx.doi.org/10.4102/sajr.v19i2.887.
Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction. Although optic atrophy is a classic presentation of Krabbe disease, we report on two patients who are biological brothers presenting with optic nerve enlargement in addition to other typical magnetic resonance imaging features of Krabbe disease, thereby confounding the initial diagnosis.