Congenital posterior urethral diverticulum in an infant with Robinow syndrome – diagnostic difficulties

Congenital posterior urethral diverticulum (PUD) is a rare congenital anomaly. Proper diagnosis and treatment in such cases still is challenging. More common are acquired diverticula of the posterior urethra, which mostly follow surgical repair of imperforate anus. We report a case of a large, congenital PUD which was diagnosed in a 3-month old boy with very rare genetic disorder Robinow syndrome, as a result of bladder catheterization difficulties before cardiac surgery. There was no previous history of voiding problems or urinary tract infections. External genital abnormalities are typical clinical findings in children with Robinow syndrome, as it was in presented patient. Imaging studies showed large PUD. The described case shows than even large PUD may be primarily asymptomatic and its diagnosis is somewhat difficult. Correspondence to: Stanislaw Warchol PhD, MD, Department of Pediatric Surgery and Urology, Medical University of Warsaw, 02-91 Zwirki and Wigury street, Warsaw, Poland, Tel. (48) 606 189 852 / ( 48 22) 3179746, E-mail: [email protected]