Kai Wang1, Liucheng Yang2, Chunhui Peng1, Wenbo Pang1, Zengmeng Wang1, Dan Zhang1, Dongyang Wu1, Yajun Chen3. 1. Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi St, Xicheng District, Beijing, 100045, China. 2. Department of General Surgery, Zhujiang Hospital of Southern Medical University, Guangdong, 510282, China. 3. Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi St, Xicheng District, Beijing, 100045, China. chenyajun@bch.com.cn.
Abstract
PURPOSE: Caudal duplication syndrome (CDS) has rarely been reported. The purpose was to describe the characteristics and discuss possible pathogenesis of CDS by reviewing our experience along with a comprehensive literature review. METHODS: A total of 51 patients including 3 from our team and 48 from literature were selected in this study. General condition, clinical manifestations, type of anomalies, treatment and prognosis was analyzed and summarized. RESULTS: Among the 51 patients were 30 females and 21 males, and age at first clinical visit was from birth to 39 years old. Except 12 patients, most of the patients had no troubling clinical manifestation. Physical examination showed that 30 patients had 1 perineum, 21 patients had 2 completely independent perineums. Degree of duplication varied; colon-rectum tubular, bladders and urethras, vaginas in females and penis shafts and glans in males were found to be the most common type of alimentary system and urogenital system duplication in this study with 24/51, 41/51, 10/30 and 16/21 patients, respectively. Anorectal malformation was calculated: 18 had 2 ARMs, 14 had 1 normal anus and 1 ARM on the other side, 12 had a normal anus, 5 had 2 normal anus, the remaining 2 patients had only 1 ARM. Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, scoliosis, and hemivertebra were noticed in 28 patients and accessory dysplasia lower limbs were found in 10 patients. Prognosis showed 39 of the 51 patients had normal function in urination and defecation. CONCLUSIONS: CDS is an extremely rare disease with uncertain pathogenesis. Colon-rectum tubular duplication with two ARMs, duplicated bladders and urethras, double vaginas in females and penis shafts and glans in males are the most common type. Long-term prognosis is good with multidisciplinary, individualized and staged surgical procedures.
PURPOSE: Caudal duplication syndrome (CDS) has rarely been reported. The purpose was to describe the characteristics and discuss possible pathogenesis of CDS by reviewing our experience along with a comprehensive literature review. METHODS: A total of 51 patients including 3 from our team and 48 from literature were selected in this study. General condition, clinical manifestations, type of anomalies, treatment and prognosis was analyzed and summarized. RESULTS: Among the 51 patients were 30 females and 21 males, and age at first clinical visit was from birth to 39 years old. Except 12 patients, most of the patients had no troubling clinical manifestation. Physical examination showed that 30 patients had 1 perineum, 21 patients had 2 completely independent perineums. Degree of duplication varied; colon-rectum tubular, bladders and urethras, vaginas in females and penis shafts and glans in males were found to be the most common type of alimentary system and urogenital system duplication in this study with 24/51, 41/51, 10/30 and 16/21 patients, respectively. Anorectal malformation was calculated: 18 had 2 ARMs, 14 had 1 normal anus and 1 ARM on the other side, 12 had a normal anus, 5 had 2 normal anus, the remaining 2 patients had only 1 ARM. Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, scoliosis, and hemivertebra were noticed in 28 patients and accessory dysplasia lower limbs were found in 10 patients. Prognosis showed 39 of the 51 patients had normal function in urination and defecation. CONCLUSIONS: CDS is an extremely rare disease with uncertain pathogenesis. Colon-rectum tubular duplication with two ARMs, duplicated bladders and urethras, double vaginas in females and penis shafts and glans in males are the most common type. Long-term prognosis is good with multidisciplinary, individualized and staged surgical procedures.