1887

n SA Journal of Radiology - Krabbe disease - an unusual presentation of optic nerve enlargement : case report

Volume 19, Issue 2
  • ISSN : 1027-202X
USD

 

Abstract

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.

Loading full text...

Full text loading...

Loading

Article metrics loading...

/content/m_sajr/19/2/EJC183837
2015-01-01
2016-12-11

This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error