Krabbe disease – An unusual presentation of optic nerve enlargement

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 subseq...

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Bibliographic Details
Main Authors: Maria Kaloianova, Jaishree Naidoo, Heather Thomson, Louisa Bhengu
Format: Article
Language:English
Published: AOSIS 2015-10-01
Series:South African Journal of Radiology
Online Access:https://sajr.org.za/index.php/sajr/article/view/887