Caudal duplication syndrome: a literature review and reappraisal of its pathoembryogenesis

Yang, Jeyul; Kim, Kyung Hyun; Lee, Ji Yeoun; Wang, Kyu Chang

doi:10.1007/s00381-021-05166-z

Cited by 7 publications

(4 citation statements)

References 38 publications

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“…Explanation for such a phenomenon can be stemmed from the interruption of embryology process of genital folds, labioscrotal folds, and urorectal septum. Normally in the 7th embryo week, development of the urorectal septum separates the cloacal into the anterior urogenital sinus and the posterior anus ( 13 , 14 ). Then, the labioscrotal folds grow to surround the urogenital sinus bilaterally, and from the 9th week, they begin to descend caudally and fuse at the midline, forming the scrotums in males ( 10 , 13 , 15 ).…”

Section: Discussionmentioning

confidence: 99%

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Characteristics and treatment of congenital perineal groove in male patients

et al. 2023

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BackgroundCongenital perineal groove (CPG) of male patients has rarely been reported before. The purpose of this study was to review our cases and describe their characteristics and treatment.MethodsFour male patients diagnosed with CPG were included in this study. Medical records were retrospectively reviewed. Type of CPG and anal position index (API) of the patients were recorded. Follow-up was through outpatient visits.ResultsTheir age ranged from 4 years and 2 months to 10 years and 9 months. Among the four patients, two complained of intermittent CPG mucosal hemorrhage and the other two had mucous secreting and soiling. The API was 0.24, 0.35, 0.36, and 0.40 for each patient, respectively, all represented anterior displacement. Type of CPG for the four patients were all partial, and the sulcus was from the posterior perineum to the edge of anus. Two patients were associated with hydrocele, imperforated anus, and rectoperineal fistula; one patient had left varicocele; the remaining patient had sacrum split. All the patients had no postoperative complication, and during the follow-up period of 5–8 months, no symptoms recurred in the four patients; they all had normal defecation.ConclusionsBoth genders share the common three characteristics. In addition, shortened perineum with anterior anus, association of perineal malformations, and partial type occurrence are the extra morphological features in male patients. Furthermore, CPG in males are rarely accompanied by urinary tract infection. Favorable prognosis could be reached after operation.

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Section: Discussionmentioning

confidence: 99%

“…Interruption of labioscrotal fold development contributes to penoscrotal transposition and bifid scrotum ( 3 , 10 ). Push force from the bilateral mesenchyme promotes the midline fusion ( 14 ). Thus, we hypothesized that the forming of scrotums with descending of testis had a larger push force for bilateral fuse than the labia fusion.…”

Section: Discussionmentioning

confidence: 99%

Characteristics and treatment of congenital perineal groove in male patients

et al. 2023

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“…However, this theory cannot fully explain complete pancolonic repetitive malformations with a round or longitudinal muscular layer ( 27 , 28 ). In addition, environmental factors such as trauma or hypoxia can contribute to the condition ( 29 ). Over time, the compressive effects due to secretion and accumulation of intestinal mucus may be the underlying pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

Duplication of the transverse colon in adults: a case report and literature review

Zhang,

Di,

Cheng

et al. 2023

Front. Oncol.

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BackgroundDuplication of the transverse colon is a rare gastrointestinal malformation. Its pathogenesis is still unclear, and it is extremely rare in adults. Patients often present with symptoms of tumor compression such as abdominal mass, abdominal pain, and constipation as the first manifestation.Methods and resultA patient with a duplication of the transverse colon was admitted to the Department of General Surgery of our hospital. Laparoscopic exploration found a mass at the rear of the transverse colon near the splenic flexure, and the root was connected to the middle portion of the transverse colon.ConclusionSurgery is a radical treatment and reduces the possibility of perforation, bleeding, obstruction, and cancer.

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“…In this study, there was an isolated spine duplication with lipomyelomeningocele, and caudal duplication syndrome was not diagnosed since fetal autopsy did not detect any malformations in other abdominal organs. In caudal duplication syndrome, gastrointestinal anomalies usually include duplicated colons, genitourinary anomalies include duplication of external genitalia, urethra and bladder, and duplication of cervix or vagina in female patients ( 14 ) . Therefore, patients with caudal duplication syndrome may have worse outcomes compared to split cord malformations due to the presence of concomitant anomalies.…”

Section: Discussionmentioning

confidence: 99%

Prenatally diagnosed fetal thoraco-lumbar spine duplication associated with lipomyelomeningocele: An extremely rare case of split cord malformation

Akalın¹,

Demirci²,

Kaygusuz³

et al. 2022

tjod

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Spine duplication is considered rare, a more serious form of split cord malformation. Ultrasonographic evaluation of the spine in the second trimester is central to the antenatal diagnosis of spinal malformations. Here, we report a case of thoraco-lumbar spine duplication associated with lipomyelomeningocele diagnosed by ultrasonography at 19 weeks of gestation. To the best of our knowledge, this is the first case report of spine duplication diagnosed by antenatal ultrasonography.

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Caudal duplication syndrome: a literature review and reappraisal of its pathoembryogenesis

Cited by 7 publications

References 38 publications

Characteristics and treatment of congenital perineal groove in male patients

Characteristics and treatment of congenital perineal groove in male patients

Duplication of the transverse colon in adults: a case report and literature review

Prenatally diagnosed fetal thoraco-lumbar spine duplication associated with lipomyelomeningocele: An extremely rare case of split cord malformation

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