Linked Life Data

21211667

Source:http://linkedlifedata.com/resource/pubmed/id/21211667

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2011-1-7
pubmed:abstractText
Fabry disease is an X-linked recessive lysosomal storage disorder caused by ?-galactosidase A deficiency. Although the disease presents in childhood, diagnosis is often delayed to adulthood or missed, presumably due to the lack of specificity of the symptoms and to the absence of major complication during the paediatric years. We report a 9-year-old boy known to have a Fabry disease who presented an episode of priapism. Successful treatment was achieved by repeated corporeal aspiration under general anaesthesia. This case is the fifth report of priapism in children with Fabry disease, suggesting that priapism may be a severe vascular complication of the disease during infancy. This report emphasizes the importance of an early diagnosis and treatment of Fabry disease, including enzyme replacement therapy, to prevent major disease-associated morbidity and to optimize patient outcomes.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1768-3122
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier Masson SAS. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
31 Suppl 2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S217-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Priapism: a severe paediatric complication of Fabry disease].
pubmed:affiliation
CHRU de Tours, Université François Rabelais, Tours, France. labarthe@med.univ-tours.fr
pubmed:publicationType
Journal Article, English Abstract, Case Reports