Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association

Purpose: Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult spinal dysraphism (OSD). No ARM-UD-OSD combination has been reported.

Aim: To share our experience and to discuss the management of ARM-UD-OSD association.

Methods: We retrospectively reviewed records of five boys with UD. Four of these had ARM-UD-OSD association. ARM was the first diagnosis in all; OSD and UD was detected during screening for associated malformation.

Results: All patients underwent ARM correction, 3 after colostomy. All reached fecal continence, 3 are performing bowel management. Three patients underwent UD surgical correction. Because of symptoms' worsening, 2 children had detethering surgery. At a mean follow-up of 9.5 years, all patients have normal renal function, 3 are on clean intermittent catheterization (CIC) for neurogenic bladder (1 has a cystostomy, another one an appendicostomy).

Conclusions: UD and OSD should be considered in patients with ARM. Children with these conditions associated must be centralized in a third-level Center and management carefully planned; in particular, urethral reconstruction should be weighed, considering CIC could be required. Suspicion of neurogenic bladder must be present in OSD patient.