Krabbe disease – An unusual presentation of optic nerve enlargement
SA Journal of Radiology
| Field | Value | |
| Title | Krabbe disease – An unusual presentation of optic nerve enlargement | |
| Creator | Kaloianova, Maria Naidoo, Jaishree Thomson, Heather Bhengu, Louisa | |
| Description | 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. | |
| Publisher | AOSIS | |
| Date | 2015-10-30 | |
| Identifier | 10.4102/sajr.v19i2.887 | |
| Source | South African Journal of Radiology; Vol 19, No 2 (2015); 4 pages 2078-6778 1027-202X | |
| Language | eng | |
| Relation |
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
https://sajr.org.za/index.php/sajr/article/view/887/1039
https://sajr.org.za/index.php/sajr/article/view/887/1040
https://sajr.org.za/index.php/sajr/article/view/887/1041
https://sajr.org.za/index.php/sajr/article/view/887/1022
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