title: [Multiple bladder diverticula caused by occipital horn syndrome].
abstract: We report on the case of a child who presented with recurrent, multiple, and voluminous bladder diverticula. Bladder diverticula are defined as a herniation of the mucosa through the bladder muscle or the detrusor. Causes are numerous and diverticula can be classified into primary congenital diverticula (para-ureteral - or Hutch diverticula - and posterolateral diverticula); secondary diverticula (resulting from chronic mechanical obstruction or from neurological disease; and diverticula secondary to connective tissue or muscle fragility. The latter is seen in disease entities such as prune belly syndrome, Ehlers-Danlos syndrome, cutis laxa syndrome, OHS (occipital horn syndrome), Menkes disease, and Williams-Beuren syndrome. In this patient, the cause of these diverticula was OHS, a genetic, recessive X-chromosome-linked syndrome, responsible for abnormal tissue caused by a disorder in copper metabolism. This case reminds us of the importance of pushing the diagnostic workup when presented with multiple and/or large bladder diverticula, and in particular to search for rare malformation syndromes after exclusion of an obstacle.
authors.affiliation: Service d'urologie, cliniques universitaires Saint-Luc, Bruxelles, Belgique.
authors.forename: L
authors.initials: L
authors.lastname: Legros
authors.affiliation: Centre de génétique humaine, cliniques universitaires Saint-Luc, Bruxelles, Belgique.
authors.forename: N
authors.initials: N
authors.lastname: Revencu
authors.affiliation: Service de neurologie pédiatrique, cliniques universitaires Saint-Luc, Bruxelles, Belgique.
authors.forename: M-C
authors.initials: MC
authors.lastname: Nassogne
authors.affiliation: Service d'urologie, cliniques universitaires Saint-Luc, Bruxelles, Belgique.
authors.forename: F-X
authors.initials: FX
authors.lastname: Wese
authors.affiliation: Service d'urologie, cliniques universitaires Saint-Luc, Bruxelles, Belgique. Electronic address: axel.feyaerts@uclouvain.be.
authors.forename: A
authors.initials: A
authors.lastname: Feyaerts
mesh_terms: D002675:Child, Preschool; D003483:Cutis Laxa / Q000150:complications* / Q000175:diagnosis; D004240:Diverticulum / Q000000981:diagnostic imaging / Q000209:etiology*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D011859:Radiography; D001743:Urinary Bladder / Q000002:abnormalities* / Q000000981:diagnostic imaging