title: [Priapism: a severe paediatric complication of Fabry disease].
abstract: Fabry disease is an X-linked recessive lysosomal storage disorder caused by α-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.
authors.affiliation: CHRU de Tours, Université François Rabelais, Tours, France. labarthe@med.univ-tours.fr
authors.forename: F
authors.initials: F
authors.lastname: Labarthe
authors.forename: C
authors.initials: C
authors.lastname: de Bodman
authors.forename: A
authors.initials: A
authors.lastname: Maruani
authors.forename: C
authors.initials: C
authors.lastname: Szwarc
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: G
authors.initials: G
authors.lastname: Lorette
authors.forename: H
authors.initials: H
authors.lastname: Lardy
mesh_terms: D002648:Child; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy / Q000379:methods; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011317:Priapism / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D035781:Siblings; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase