Krabbe disease – An unusual presentation of optic nerve enlargement

Krabbe disease – An unusual presentation of optic nerve enlargement

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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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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
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spelling doaj-d2c38c442bff48a89b923a9bfa07d05e2020-11-24T21:34:41ZengAOSISSouth African Journal of Radiology1027-202X2078-67782015-10-01192e1e410.4102/sajr.v19i2.887638Krabbe disease – An unusual presentation of optic nerve enlargementMaria Kaloianova0Jaishree Naidoo1Heather Thomson2Louisa Bhengu3Department of Radiology, Charlotte Maxeke Johannesburg Academic Hospital and University of the WitwatersrandDepartment of Radiology, Charlotte Maxeke Johannesburg Academic Hospital and University of the WitwatersrandDepartment of Paediatrics Charlotte Maxeke Johannesburg Academic Hospital and University of the WitwatersrandDepartment of Human Genetics National Health Laboratory Services, School of Pathology and University of WitwatersrandKrabbe 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.https://sajr.org.za/index.php/sajr/article/view/887
collection DOAJ
language English
format Article
sources DOAJ
author Maria Kaloianova
Jaishree Naidoo
Heather Thomson
Louisa Bhengu
spellingShingle Maria Kaloianova
Jaishree Naidoo
Heather Thomson
Louisa Bhengu
Krabbe disease – An unusual presentation of optic nerve enlargement
South African Journal of Radiology
author_facet Maria Kaloianova
Jaishree Naidoo
Heather Thomson
Louisa Bhengu
author_sort Maria Kaloianova
title Krabbe disease – An unusual presentation of optic nerve enlargement
title_short Krabbe disease – An unusual presentation of optic nerve enlargement
title_full Krabbe disease – An unusual presentation of optic nerve enlargement
title_fullStr Krabbe disease – An unusual presentation of optic nerve enlargement
title_full_unstemmed Krabbe disease – An unusual presentation of optic nerve enlargement
title_sort krabbe disease – an unusual presentation of optic nerve enlargement
publisher AOSIS
series South African Journal of Radiology
issn 1027-202X
2078-6778
publishDate 2015-10-01
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.
url https://sajr.org.za/index.php/sajr/article/view/887
work_keys_str_mv AT mariakaloianova krabbediseaseanunusualpresentationofopticnerveenlargement
AT jaishreenaidoo krabbediseaseanunusualpresentationofopticnerveenlargement
AT heatherthomson krabbediseaseanunusualpresentationofopticnerveenlargement
AT louisabhengu krabbediseaseanunusualpresentationofopticnerveenlargement
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