title: Priapism and Fabry disease: a case report.
abstract: A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase activity in serum and leucocytes. Other characteristic features of Fabry disease were not present. The condition was also diagnosed in his 14-year-old brother and suspected in his maternal grandfather who died at the age of 49 from renal failure of unknown aetiology.
authors.affiliation: Department of Paediatrics, Hospital Infantil La Paz, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: García-Consuegra
authors.forename: M
authors.initials: M
authors.lastname: Padrón
authors.forename: E
authors.initials: E
authors.lastname: Jaureguizar
authors.forename: C
authors.initials: C
authors.lastname: Carrascosa
authors.forename: J
authors.initials: J
authors.lastname: Ramos
mesh_terms: D002648:Child; D000795:Fabry Disease / Q000150:complications* / Q000503:physiopathology; D005190:Family; D006801:Humans; D008297:Male; D011317:Priapism / Q000209:etiology* / Q000503:physiopathology