A rare case of bladder diverticulosis

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.