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[Multiple bladder diverticula caused by occipital horn syndrome]
L Legros1, N Revencu2, M-C Nassogne3
1Service d'urologie, cliniques universitaires Saint-Luc, Bruxelles, Belgique.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|September 21, 2015
Summary
This case highlights occipital horn syndrome (OHS) as a cause of multiple bladder diverticula in a child. Early diagnosis of rare genetic syndromes is crucial for managing complex urinary issues.
Area of Science:
- Urology
- Medical Genetics
- Pediatric Surgery
Background:
- Bladder diverticula are outpouchings of the bladder mucosa.
- Causes include congenital factors, obstruction, neurological disease, and connective tissue disorders.
Observation:
- A child presented with recurrent, multiple, and large bladder diverticula.
- The underlying cause was identified as occipital horn syndrome (OHS).
Findings:
- Occipital horn syndrome (OHS) is a rare, X-linked genetic disorder affecting copper metabolism.
- OHS can manifest with connective tissue abnormalities leading to bladder diverticula.
Implications:
- Emphasizes the need for thorough diagnostic evaluation in cases of multiple or large bladder diverticula.
- Suggests considering rare genetic syndromes like OHS when mechanical obstruction is ruled out.
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