Caudal Duplication Syndrome Systematic Review—A Need for Better Multidisciplinary Surgical Approach and Follow-Up

Abstract

Background and Objectives: Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations. The current literature focuses on case reports which describe the embryological etiology and anatomical spectrum of the condition giving little attention to the surgical preparation, the need for a well-structured follow-up program, or the transition into adult healthcare of these complex patients. No reviews have been published regarding this complex pathology. Materials and Methods: A review of caudal duplication syndrome cases was done to assess the range of the clinical malformations, timing, and types of surgical interventions. Inconsistencies in multidisciplinary care, follow-up, and risk events were described. Results: Hindgut duplication always involved the anorectal region. Anorectal malformations were evenly distributed as unilateral and bilateral. Colon duplication extended from the anal region to the transverse colon or ascending colon in most of the cases and less to terminal. In females, genital duplication was present in all cases. The follow-up period varied between 3 months and 12 years. In all adult females, the motive of presentation was related to pregnancy (complications after successful delivery, fertility evaluation) or late complications (fecalith obstruction of the end-to-side colon anastomosis, repeated UTIs with renal scarring). Conclusions: Complex malformations affecting multiple caudal organs may have a strong impact in many aspects of the long-term quality of life; therefore, patients with caudal duplication syndrome need increased awareness and joined multidisciplinary treatment.

Caudal duplication syndrome: a rare entity

“…In all adult females the reason for presentation was related to pregnancy (complications after a successful vaginal delivery, fertility evaluation) or late complications (obstruction of colon anastomosis or repeated UTI with renal scarring). 10 Spinal cord malformations were reported in half of the cases. 10 The level of duplication in the spine is mostly in the lower thoracic region, similar to the branching of a tree.…”

“…10 Spinal cord malformations were reported in half of the cases. 10 The level of duplication in the spine is mostly in the lower thoracic region, similar to the branching of a tree. 4 Defects of fusion and hemivertebrae of vertebral spine were most common, like in our case where the 3rd sacral vertebra was dysmorphic along with coccyx duplication.…”

“…The purpose of treatment is to preserve or improve faecal and urinary continence, maintain reproductive potential, allow a satisfactory sexual life with acceptable cosmetic appearance of the perineum and manage other neurological disabilities. 10 In the index case no surgical intervention for anomalies correction was done as she was asymptomatic. The purpose of reconstructive surgery for genital duplication is cosmetic as normal menstruation and pregnancy are anticipated in most female patients of CDS although infertility workup has also been reported.…”