Case Report

Krabbe disease – An unusual presentation of optic nerve enlargement

Maria Kaloianova, Jaishree Naidoo, Heather Thomson, Louisa Bhengu
South African Journal of Radiology | Vol 19, No 2 | a887 | DOI: https://doi.org/10.4102/sajr.v19i2.887 | © 2015 Maria Kaloianova, Jaishree Naidoo, Heather Thomson, Louisa Bhengu | This work is licensed under CC Attribution 4.0
Submitted: 07 June 2015 | Published: 30 October 2015

About the author(s)

Maria Kaloianova, Department of Radiology, Charlotte Maxeke Johannesburg Academic Hospital and University of the Witwatersrand, South Africa
Jaishree Naidoo, Department of Radiology, Charlotte Maxeke Johannesburg Academic Hospital and University of the Witwatersrand, South Africa
Heather Thomson, Department of Paediatrics Charlotte Maxeke Johannesburg Academic Hospital and University of the Witwatersrand, South Africa
Louisa Bhengu, Department of Human Genetics National Health Laboratory Services, School of Pathology and University of Witwatersrand, South Africa


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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.

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