MRI diagnosis of Alexander disease

MRI diagnosis of Alexander disease

Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with front...

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Bibliographic Details
Main Authors: C G Muralidharan, R P S Tomar, R Aggarwal
Format: Article
Language:English
Published: AOSIS 2012-09-01
Series:South African Journal of Radiology
Subjects:
Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation
Online Access:https://sajr.org.za/index.php/sajr/article/view/296
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spelling doaj-814c2578e1bf4c06b0e24bc851e285ae2020-11-24T22:15:21ZengAOSISSouth African Journal of Radiology1027-202X2078-67782012-09-0116311611710.4102/sajr.v16i3.296296MRI diagnosis of Alexander diseaseC G Muralidharan0R P S Tomar1R Aggarwal2MH JalandharMH JalandharAF Hospital, HalwaraAlexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with frontal preponderance of white matter abnormalities and macroencephaly. We report a case of leucoencephalopathy with macroencephaly that shows characteristic MRI features of Alexander disease.https://sajr.org.za/index.php/sajr/article/view/296Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation
collection DOAJ
language English
format Article
sources DOAJ
author C G Muralidharan
R P S Tomar
R Aggarwal
spellingShingle C G Muralidharan
R P S Tomar
R Aggarwal
MRI diagnosis of Alexander disease
South African Journal of Radiology
Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation
author_facet C G Muralidharan
R P S Tomar
R Aggarwal
author_sort C G Muralidharan
title MRI diagnosis of Alexander disease
title_short MRI diagnosis of Alexander disease
title_full MRI diagnosis of Alexander disease
title_fullStr MRI diagnosis of Alexander disease
title_full_unstemmed MRI diagnosis of Alexander disease
title_sort mri diagnosis of alexander disease
publisher AOSIS
series South African Journal of Radiology
issn 1027-202X
2078-6778
publishDate 2012-09-01
description Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with frontal preponderance of white matter abnormalities and macroencephaly. We report a case of leucoencephalopathy with macroencephaly that shows characteristic MRI features of Alexander disease.
topic Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation
url https://sajr.org.za/index.php/sajr/article/view/296
work_keys_str_mv AT cgmuralidharan mridiagnosisofalexanderdisease
AT rpstomar mridiagnosisofalexanderdisease
AT raggarwal mridiagnosisofalexanderdisease
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