Long-Term Bladder Dysfunction and Bilateral Obstructive Megaureter in VACTERL Syndrome: A Case Report of Challenging Urological Management

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Background and Clinical Significance: VACTERL association is a rare spectrum of congenital malformations that may involve the genitourinary system. We describe a challenging case of hypotonic, hyporeflexic, large-capacity bladder with bilateral obstructive megaureter in a boy with VACTERL syndrome, highlighting diagnostic and therapeutic challenges. Case Presentation: A 16-year-old boy with VACTERL syndrome, previously operated for esophageal atresia, Fallot’s tetralogy, Y-type urethral duplication, and bilateral vesicoureteral reflux, presented with breakthrough urinary tract infections, orchiepididymitis, and flank pain. Investigations revealed an enlarged bladder capacity (1000 mL), detrusor underactivity, high post-void residual volume, and bilateral hydronephrosis with megaureter. Obstruction of the bladder neck and neurological causes were excluded. After multidisciplinary discussion, bilateral ureteral reimplantation and limited reductive cystoplasty were performed. Histology revealed granulomatous foreign-body reaction due to previous bulking agent injection. Postoperative course was uneventful. At the three-year follow-up, the patient is asymptomatic with normal voiding and preserved renal function. Conclusions: This case illustrates the diagnostic and therapeutic challenges of managing late urological complications in a VACTERL patient with pre-existing urinary anomalies. The overlap of congenital and iatrogenic factors made the diagnostic pathway complex, requiring careful exclusion of neurogenic and mechanical causes. A tailored surgical strategy restored bladder function and preserved renal outcome.

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