**Spătaru Radu-Iulian 1,2, Avino Adelaida 3,4,\*, Iozsa Dan-Alexandru 1,2, Ivanov Monica 2, Serban Dragos 5,6, Tomescu Lumini¸ta Florentina <sup>7</sup> and Cirstoveanu Cătălin 8,9**


Received: 8 November 2020; Accepted: 24 November 2020; Published: 27 November 2020

**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.

**Keywords:** caudal duplication syndrome; colorectal duplication; genitourinary duplication; congenital malformation; pediatric surgery

## **1. Introduction**

Caudal duplication syndrome (CDS) is a very rare congenital cluster of anomalies. Dominguez et al. (1993) defined it as an association of hindgut duplication, duplication of the lower uro-genital tract, spinal cord, and vertebral anomalies at heterogeneous degrees of severity resulting from a fetal insult at different stages of embryogenesis [1,2].

Considering the very low incidence of this malformation and the variety of clinical presentations, the majority of published literature focus on description of the anatomical spectrum and the possible embryological etiology and less on the short- and long-term surgical planning, implementation of a structured follow-up plan, and the responsibility for transition of care into adult healthcare of these complex patients [3,4].

Each type of gastrointestinal, genitourinary, and/or distal spine duplication, either partial or complete cannot be discussed separately but together and its management must be adjusted to each individual case. The purpose of treatment is to preserve or improve fecal and urinary continence, maintain reproductive potential, allow a satisfactory sexual life with acceptable cosmetic appearance of the perineum, and manage other neurological disabilities. All these will impact the long-term morbidities and quality of life [5].

The impact of the malformations severity on the prognosis and risks of potential complications of the surgical treatment can be reduced by a comprehensive anatomical and functional preoperative evaluation, prospective multidisciplinary surgical planning, and active involvement of the patient and family to assure collaboration and adherence to the follow-up plan.

The objective of this review is to recognize possible surgical management patterns used to treat different clinical presentations of CDS, to examine the presence of gaps in patients' care, to assess risk events which can occur during life and might signal the need for planned intervention and identify groups of patients with CDS which require special attention.
