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Title
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Galactosidase alpha p.A143T variant Fabry disease may result in a phenotype with multifocal microvascular cerebral involvement at a young age
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Author
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Abstract
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| Introduction: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 mu mol/L or 13% of normal, normal range >= 1.65 mu mol/L) and genetic investigation confirmed the presence of a hemizygous missense variant in the galactosidase alpha (GLA) gene (p.A143T) Baseline assessment of other systemic involvement showed only a discrete proteinuria Background: FD is a rare lysosomal storage disorder Genetic screening studies have revealed over 600 variants in the GLA gene. The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients Some authors, however, deem this variant non-pathogenic. We describe the case of a 16-year-old male with multifocal white matter lesions on brain MRI, who was diagnosed with FD and carried this genetic variant. Discussion: The causative p.A143T mutation can be associated with a more severe subclinical phenotype than has been reported to date Furthermore, a diagnosis of FD should be considered when finding asymptomatic cerebral white matter lesions in a young patient |
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Language
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English
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Source (journal)
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Frontiers in neurology / Frontiers Research Foundation (Lausanne, Switzerland) - Lausanne, 2010, currens
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Publication
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Lausanne
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Frontiers Research Foundation
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2018
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ISSN
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1664-2295
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DOI
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10.3389/FNEUR.2018.00336
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Volume/pages
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9
(2018)
, 5 p.
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Article Reference
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336
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ISI
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000432401100001
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Pubmed ID
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29867742
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (open access)
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