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A rare case of bladder diverticulosis
Martina Saruggia1, Giulio Cabrelle2, Carlo Poggiani3
1Neonatal Intensive Care Unit, Papa Giovanni XXIII Hospital, Bergamo, Italy.
Insights
Pediatric bladder diverticulosis is rare and often linked to genetic conditions like cutis laxa syndrome. This case highlights a neonatal finding, emphasizing the need for thorough urinary tract evaluation.
Area of Science:
- Pediatric Urology
- Medical Genetics
- Radiology
Background:
- Bladder diverticula are uncommon in children and often asymptomatic.
- Primary diverticula differ from secondary ones, which result from obstruction or iatrogenic causes.
- Genetic syndromes can manifest as bladder diverticula.
Observation:
- A rare neonatal case of bladder diverticulosis with bladder alterations was identified via ultrasound.
- Imaging studies, including voiding cystography and MRI, revealed diverse diverticula sizes and distribution.
- Other urinary tract malformations were excluded.
Findings:
- The specific characteristics of the bladder diverticula pointed towards a diagnosis of cutis laxa syndrome.
- This highlights bladder diverticulosis as a potential sign of a more complex underlying genetic disorder.
Implications:
- Early detection of bladder diverticula in neonates warrants investigation for associated genetic syndromes.
- Comprehensive imaging is crucial for characterizing bladder diverticula and ruling out other anomalies.
- This case expands the understanding of cutis laxa syndrome manifestations.
Abstract:
The incidence of bladder diverticula in the pediatric population is unknown as they are often asymptomatic. A minority of cases are a manifestation of a genetic syndrome. Primary diverticula have different features compared to secondary diverticula, which are generally caused by an obstructive or iatrogenic mechanism. This clinical case deals with a rare neonatal finding of bladder diverticulosis with alteration of the bladder, first detected with ultrasound. Voiding cystography and magnetic resonance allowed us to delineate their heterogeneity in size, their distribution in the bladder and to rule out other malformations of the urinary tract. The features of these diverticula focused the diagnosis of cutis laxa syndrome, a rare disease where bladder diverticulosis is only one sign of a more complex disease.
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