Diverticulose vésicale liée à un syndrome de la corne occipitale

(fre) Nous rapportons le cas d’un enfant ayant consulté pour des diverticules vésicaux récidivants, multiples et volumineux. Le bilan étiologique a permis d’identifier un syndrome de la corne occipitale, de transmission récessive liée au chromosome X, responsable d’anomalies du tissu conjonctif causées par un trouble du métabolisme du cuivre. Ce cas rappelle l’importance d’une démarche diagnostique approfondie face à des diverticules vésicaux particulièrement nombreux et développés, après exclusion d’un obstacle.

(eng) [Multiple bladder diverticula caused by occipital horn syndrome]. 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.