Revisiting Anatomy of Anorectal Malformations with a Symbolic AI Segmentation Method Applied on Diffusion MRI: The Lumbosacral Plexus Development and Microarchitecture Is Different in High and Low Types

Anorectal malformations (ARMs) are congenital anomalies of the distal part of the hindgut often associated with sacral and/or spinal anomalies. We investigated anatomical and microstructural properties of the lumbosacral plexus of ARM patients from imaging data. Twenty-five patients (16 males), median age 4 months (2–49), 13 high and 12 low ARM, underwent 3 Tesla magnetic resonance imaging with diffusion tensor sequences (dMRI) before repair. A 3D model was built from manual segmentation and used to guide novel AI algorithms for the segmentation of the nervous pelvic network. Volume and diffusion parameters were obtained for each root (L5 to S4) and compared among patients with high and low ARMs using a nonparametric Wilcoxon test. Comparison was also made between the groups with (n = 9) or without (n = 16) sacral and/or spinal cord anomalies. When compared with low ARMS, high ARMs exhibited the following: a smaller volume of S1, S2, and S3 roots and of S1 and S3 for patients without sacral and/or spinal cord abnormalities; an overall significant alteration of the roots micro-architecture reflected by a diminution of the fractional anisotropy and an increase of the axial diffusivity and radial diffusivity measures. This first analysis of the lumbosacral plexus from dMRI in children with ARMs shows differences in the development and microarchitecture of the lumbosacral nerve roots between high and low ARMs. This observation supports the hypothesis that high ARMs may result from a more regional developmental abnormality than low ARMs and open new ways to visualize and assess the lumbosacral plexus in children and adults.