Radiological Evidence of Early Cerebral Microvascular Disease in Young Children with Fabry Disease

We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to...

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 147; no. 1; pp. 102 - 105
Main Authors Cabrera-Salazar, Mario A., O'Rourke, Erin, Charria-Ortiz, Gustavo, Barranger, John A.
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.07.2005
Elsevier
Subjects
Biological and medical sciences
Cerebrovascular Disorders - pathology
Child
Errors of metabolism
Fabry Disease - pathology
General aspects
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic diseases
Microcirculation
CNS
FLAIR
MRI
ERT
α-Gal A
Human
Pediatrics
Nervous system diseases
Central nervous system
Fabry disease
Cardiovascular disease
Metabolic diseases
Lipids
Early stage
Enzymopathy
Genetic disease
Encephalon
Vascular disease
Microcirculation
Microangiopathy
Radiology
Lipoidosis
Child
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Summary:We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to avoid irreversible complications.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.03.004