Magnetic resonance imaging in children with anorectal malformations: embryologic implications

The aim of this study was to evaluate the spectrum of developmental anomalies in the caudal region of patients with anorectal malformations (ARM) and relate them to the new insights in the embryogenesis of this region.

Forty-nine patients with ARM were investigated with magnetic resonance imaging (MRI); 24 preoperatively (preop) and 25 postoperatively (postop). Of this group, 17 patients had a high (or intermediate) ARM, 28 a low ARM, and 4 a cloacal malformation (CM). The evaluation of the imaging studies included the level and type of ARM (preop); the developmental state of the sphincter muscle complex (SMC); and the associated anomalies of spinal cord, spine, and urogenital system. The anomalies detected were ordered and related to recent embryologic observations in the caudal region.

With MRI, the level of ARM was depicted effectively in 23 of 24 patients (96%) investigated preop, including 5 of 9 clinically proven fistulae in those with high ARM and CM (56%). Maldevelopment of the SMC was observed in 14 of 49 patients (29%). Associated anomalies of spinal cord and spine were found in 51% of patients, more frequently in those with high ARM, low ARM with fistulae, and cloacal malformations. Associated anomalies of the urogenital system were found in 37% of patients.

As illustrated by the current study, MRI has become indispensable for the visualization of the nature of congenital ARM and associated anomalies. Moreover, MRI aids in understanding the morphology and pathogenesis of these complex congenital malformations. Based on the MRI and recent embryologic observations, a new and simplified classification of ARM is introduced, including a more appropriate nomenclature.