[Multiple bladder diverticula caused by occipital horn syndrome]. / Diverticulose vésicale liée à un syndrome de la corne occipitale.
Arch Pediatr
; 22(11): 1147-50, 2015 Nov.
Article
em Fr
| MEDLINE
| ID: mdl-26386812
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Bexiga Urinária
/
Divertículo
/
Cútis Laxa
/
Síndrome de Ehlers-Danlos
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Bélgica