Severe bladder dysfunction revealed prenatally or during infancy

Although thought to be an acquired condition, non-neurogenic neurogenic bladder may sometimes be a congenital dysfunction, revealed before toilet training. We report our experience with the condition diagnosed prenatally or during early infancy.

We retrospectively reviewed cases of severe bladder dysfunction with upper-tract impairment, without neurological or obstructive pathology, in children diagnosed before toilet training: five with prenatal diagnosis of severe hydro-ureteronephrosis (group 1) and six with signs of bladder dysfunction during infancy (group 2).

Follow up of group 1 showed decompensation toward severe bladder dysfunction, diagnosed after either toilet training or ureteral reimplantation (n=3). After a median follow up of 14 years (0.5-20), four were on clean intermittent catheterization with bladder augmentation and one required sphincteric re-education with good result. Two of the five had chronic renal failure. In group 2, six children (two females) presented at median age of 20 months (2-30) with indirect signs of bladder dysfunction, including vesicoureteral reflux (n=4) and/or hydro-ureteronephrosis (n=4). After a median follow up of 11 years (5-20), three were on clean intermittent catheterization (two Mitrofanoff channels), and three underwent bladder augmentation. Three children had chronic renal failure of whom one underwent renal transplant.

These cases of severe bladder dysfunction were initially misdiagnosed. In both groups, follow up revealed severe dilatation of the upper tract and secondary renal impairment. Antenatal diagnosis of bilateral pyeloureteral dilatation may be the first sign of early bladder dysfunction.