Two cases with Down syndrome manifesting as acute urinary retention due to voiding dysfunction

Abstract

Voiding dysfunction is not well known in infants with Down syndrome (DS). Herein, we report two cases with DS who presented with acute urinary retention due to voiding dysfunction. Both cases (Case 1: a 2-year-old girl; Case 2: a 6-year-old girl) developed pyelonephritis accompanied by acute urinary retention resulting in acute kidney injury, which was resolved by fluid replacement, antibiotics and urinary catheterization. In Case 1, voiding dysfunction was assumed to have been latent before the acute urinary retention, because she subsequently required long-term clean intermittent catheterization (CIC) to prevent renal damage. In Case 2, megaureter and vesicoureteral reflux had been previously detected at the age of 3 years, and voiding dysfunction had been identified by a urodynamic study at 5 years of age. She had suffered from frequent urinary tract infections that had caused renal scarring and damage requiring the eventual initiation of CIC. Both cases were diagnosed with non-neurogenic neurogenic bladder due to the absence of structural abnormalities in the spinal cord and urethra. Continuous observation for symptoms of voiding dysfunction after birth is warranted for infants with DS.