[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: L Legros, N Revencu, M-C Nassogne, F-X Wese, A Feyaerts
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 22 Issue 11 Pg. 1147-50 (Nov 2015) ISSN: 1769-664X [Electronic] France
• Vernacular Title: Diverticulose vésicale liée à un syndrome de la corne occipitale.
• PMID: 26386812 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Topics

• Child, Preschool
• Cutis Laxa (complications, diagnosis)
• Diverticulum (diagnostic imaging, etiology)
• Ehlers-Danlos Syndrome (complications, diagnosis)
• Humans
• Male
• Radiography
• Urinary Bladder (abnormalities, diagnostic imaging)