RARE DISEASE
Rectal duplication
Rectal duplication
Rectal duplication
Drug discovery
70
papers
On emerging therapies
Overview
Overview: Rectal duplication is a rare congenital anomaly (3%-8% of gastrointestinal duplications) characterized by cystic or tubular structures adjacent to the rectum, lined by intestinal mucosa and smooth muscle [1][11]. Often asymptomatic, symptoms may include rectal bleeding, perianal pain, urinary retention, or fistulization mimicking pilonidal disease [1][4]. Malignant transformation (e.g., adenocarcinoma) occurs in ~12% of adults [1][4]. Diagnosis requires MRI or endoscopic ultrasound, with surgical excision as definitive therapy [1][2][7].
Categories: rare abdominal surgical diseases, rare developmental anomalies during embryogenesis, rare genetic diseases
Research Papers
70 drug discovery papers about Rectal duplication. Recent publications:
70 drug discovery papers about Rectal duplication. Recent publications:
categories:
Small molecules
cell therapies
2026-05-14 | Endoscopic-assisted laparoscopic excision of a giant rectal duplication cyst: a case report
Rectal duplication cysts are challenging to excise due to their close association with the native rectal wall, making safe identification of the dissection plane difficult. A 13-year-old male presented with abdominal fullness, intermittent severe pain, and decreased appetite, and was found on magnetic resonance imaging to have a 19 x 18 x 12 cm abdominopelvic cystic lesion initially suspected to be a lymphatic malformation. He underwent laparoscopic exploration, which revealed a rectal duplication cyst. During dissection, intermittent transanal endoscopic insufflation with a rigid sigmoidoscope was used to dynamically distinguish the rectum from the cyst wall and guide safe plane identification. Complete laparoscopic excision was achieved without rectal injury or conversion to open surgery. The postoperative course was uncomplicated, and the patient remains asymptomatic without complications at five-year follow-up. Intraoperative rigid sigmoidoscopy with intermittent insufflation is a simple and reproducible adjunct that facilitates identification of the dissection plane and may reduce the risk of rectal injury during laparoscopic excision of pediatric rectal duplication cysts. • Rectal duplication cyst excision is limited by difficult plane identification. • Sigmoidoscopy enables real-time visualization of the rectal lumen. • Endoscopic insufflation improves dissection and reduces rectal injury risk. • Technique is useful in older children where Hegar dilators are limited.
2026-05-01 | A rare case of colorectal duplication with rectourethral fistula in a child: diagnostic challenges and surgical management from Northwest Ethiopia.
Alimentary tract duplications are rare congenital anomalies. Colorectal duplication is particularly uncommon and may present with nonspecific features, posing diagnostic challenges. An association with rectourethral fistula is extremely rare. A 2-year-old male child presented with chronic constipation, abdominal distension, failure to thrive, and recurrent urinary tract infections. The later development of pneumaturia and fecaluria suggested an enterourinary fistula. Contrast enema demonstrated a reversed rectosigmoid ratio without a clear transition zone, initially raising suspicion for Hirschsprung disease. Voiding cystourethrography confirmed a rectourethral fistula. Surgical exploration revealed a duplicated sigmoid colon and rectum. Due to diagnostic uncertainty and poor nutritional condition of the child, a staged surgical approach was undertaken. Initial surgery involved diverting sigmoid colostomy and rectal biopsy. Histopathology excluded Hirschsprung disease. Definitive surgery included excision of the duplicated colorectal segment, pull-through reconstruction, and fistula repair. The postoperative course was uneventful with marked improvement in nutritional status and bowel function. Colorectal duplication with rectourethral fistula is a rare condition that may present with overlapping features of other colorectal disorders. Careful clinical evaluation, appropriate imaging, and staged surgical management are essential for optimal outcomes, particularly in resource-limited settings.
2026-02-06 | Double trouble: Rectoperineal fistula with rectal duplication and VACTERL association: A case report
Introduction Rectal duplications are rare congenital malformations, with approximately 100 cases reported in the literature. Only 12 of these involve concurrent anorectal malformations (ARMs). We report the case of rectal duplication with anterior rectoperineal fistula in an infant with VACTERL association. Case presentation A 20-day-old term female presented with failure to thrive and severe diaper rash. She was found to have a rectoperineal fistula on physical examination by a pediatric surgeon. VACTERL work-up revealed cardiac anomalies (VSD, PFO, PDA), left renal ectopia, low lying conus medullaris, and right hip dysplasia. She was taken to the operating room for an ASARP on day of life 26. Intra-operatively, a rectoperineal fistula was identified 1.5cm anterior to the sphincter complex. Dissection of the fistula revealed two openings: the rectoperineal fistula anteriorly and a blind pouch posteriorly, consistent with a rectal duplication. The fistula was dissected from the perineum anteriorly and laterally, while the rectal duplication was dissected from the perineum posteriorly. The common wall between the rectum and the rectal duplication was divided in the midline, creating a common channel between the rectum and the rectal duplication. The neo-anus was then fashioned and calibrated to a 12 Hagar dilator. Post-operatively, the patient resumed feeding and stooling without complications. She is now two years old and stooling normally. Conclusion Although rare, colorectal duplications can coexist with anorectal malformations.
2025-10-07 | Adult Rectal Duplication Cyst Presenting as Chronic Back Pain
Abstract Title Adult Rectal Duplication Cyst Presenting as Chronic Back Pain Background Alimentary tract duplications are rare congenital anomalies with an incidence of approximately 1 in 4,500 live births. They are most commonly identified in infancy or childhood. Rectal duplication cysts (RDCs), a particularly uncommon subtype, account for just 1%-6% of all alimentary tract duplications. These lesions typically present as cystic structures containing layers of gastrointestinal wall histology. While often asymptomatic, their presentation can vary significantly depending on patient age. In children, RDCs may present as bowel obstruction, recurrent perianal infections, or be discovered on physical examination. In contrast, adults may present with vague or unrelated symptoms, found incidentally on imaging. In rare cases, RDCs may become symptomatic due to compression of adjacent structures, infection, fistula formation, or even malignant transformation. Given their deep pelvic location and nonspecific symptomatology, they are often misdiagnosed or overlooked. Reports of RDCs in adults are rare, and their varied presentation poses significant challenges in diagnosis and management. We present the case of an adult woman who presented with chronic back pain and was found to have an RDC, emphasizing the importance of considering congenital anomalies in the differential diagnosis of pelvic masses in adults. Case Presentation A 41-year-old female presented with a five-year history of low back pain radiating to both legs, initially attributed to lumbar radiculopathy. She denied gastrointestinal or urinary symptoms. On physical examination, a firm mass was palpated posterior to the rectum. Pelvic MRI revealed a 7 cm heterogenous mass in the presacral space. CT showed the posterior pelvic mass abutting the distal coccyx without involving the sacrum. Given the concern for malignancy, she underwent robotic-assisted laparoscopic resection. Intraoperatively, a 5-6 cm well-encapsulated presacral mass was identified and excised via a Pfannenstiel incision. She was discharged home the same day without complications. Histopathologic analysis revealed squamous epithelium overlying smooth muscle and connective tissue, consistent with a benign rectal duplication cyst. Discussion Adult RDCs are rare and often present with nonspecific symptoms, making diagnosis difficult. MRI is preferred for soft tissue evaluation, while CT can assess for bony involvement. Complete surgical resection remains the definitive treatment and diagnostic modality. Robotic resection offers superior visualization with improved post-operative pain. This case emphasizes the need to include RDCs in the differential diagnosis of chronic pelvic or back pain in adults.
2025-09-08 | A rare case of complex perineal anomaly in a male neonate: Multistage surgical management.
We present a rare case of a full-term male neonate with a complex perineal anomaly featuring a mucosa-lined cleft extending from the penile base to the right gluteal fold, accompanied by penoscrotal transposition, hemiscrotal hypoplasia, and hypospadias. The lesion's anatomical and histological characteristics suggest antenatal rupture of a rectal duplication cyst. This report highlights the diagnostic challenges of exteriorized rectal duplications and underscores the importance of multistage reconstruction for optimal functional and cosmetic outcomes.
small molecules
2026-04-03 | Abstract 6619: Inhibition of PLK4 overcomes radioresistance in locally advanced rectal cancer through genomic instability and apoptotic cell death.
Abstract Background: Polo-like kinase 4 (PLK4), a key regulator of centrosome duplication, has been implicated in cancer progression and therapeutic resistance. Although PLK4 overexpression is frequently observed in various malignancies, its functional contribution to radiotherapy (RT) response in colorectal cancer (CRC) remains poorly understood. Methods: To investigate whether PLK4 inhibition enhances radiosensitivity, CRC cell lines HCT116 (p53 wild-type) and HT29 (p53 mutant) were treated with the selective PLK4 inhibitor CFI-400945, RT or their combination. Cell viability and clonogenic assays were performed to evaluate cytotoxicity. DNA damage responses were assessed by γH2AX immunofluorescence and Western blot analysis of p-ATM, p-CHK2, and DNA-PKcs. Cell-cycle profiles and centrosomal abnormalities were examined by flow cytometry and γ-tubulin staining, respectively. Apoptosis was determined through cleaved PARP-1 and caspase-3 expression levels. Results: CFI-400945 treatment reduced cell viability in a dose- and time-dependent manner and significantly enhanced the cytotoxic effects of RT in both CRC cell lines. Combined treatment markedly increased γH2AX foci formation and upregulated DNA damage response proteins, including p-ATM, p-CHK2, and DNA-PKcs. PLK4 inhibition also induced centrosome amplification, micronuclei formation, and multinucleation, indicating mitotic defects leading to genomic instability. Furthermore, the combination therapy enhanced G2/M arrest and apoptosis, as evidenced by elevated levels of cleaved PARP-1 and caspase-3. Conclusions: PLK4 inhibition sensitizes colorectal cancer cells to radiation by promoting DNA damage accumulation, mitotic catastrophe, and apoptotic cell death. These findings suggest that targeting PLK4 may serve as a potential therapeutic strategy to overcome radioresistance in CRC. Citation Format: Sung Uk Bae, Jeong-Woo Hwang, Hyewon Lee, Hyowon Hong, Sang Jun Byun. Inhibition of PLK4 overcomes radioresistance in locally advanced rectal cancer through genomic instability and apoptotic cell death [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 6619.
2014-09-30 | Sacrococcygeal teratoma associated with hindgut duplication: A case report & review of literature
The index case report describes a previously unreported coexistence of sacrococcygeal teratoma and a tubular duplication of the rectum. The child presented with a large sacrococcygeal mass. He was treated with pre-operative chemotherapy to reduce the bulk of the tumor and subsequently underwent surgical resection. Exploration surprisingly revealed an additional long tubular duplication of the rectum, which did not share any lumen with the parent gut. The duplication cyst and the residual tumor were excised. The histopathology report confirmed residual mature teratoma and the duplication cyst. Relevant literature is reviewed.
2014-03-13 | Obscure bleeding colonic duplication responds to proton pump inhibitor therapy.
We report the case of a 17-year-old male admitted to our academic hospital with massive rectal bleeding. Since childhood he had reported recurrent gastrointestinal bleeding and had two exploratory laparotomies 5 and 2 years previously. An emergency abdominal computed tomography scan, gastroscopy and colonoscopy, performed after hemodynamic stabilization, were considered normal. High-dose intravenous proton pump inhibitor (PPI) therapy was initiated and bleeding stopped spontaneously. Two other massive rectal bleeds occurred 8 h after each cessation of PPI which led to a hemostatic laparotomy after negative gastroscopy and small bowel capsule endoscopy. This showed long tubular duplication of the right colon, with fresh blood in the duplicated colon. Obscure lower gastrointestinal bleeding is a difficult medical situation and potentially life-threatening. The presence of ulcerated ectopic gastric mucosa in the colonic duplication explains the partial efficacy of PPI therapy. Obscure gastrointestinal bleeding responding to empiric anti-acid therapy should probably evoke the diagnosis of bleeding ectopic gastric mucosa such as Meckel's diverticulum or gastrointestinal duplication, and gastroenterologists should be aware of this potential medical situation.
cell therapies
2026-05-14 | Endoscopic-assisted laparoscopic excision of a giant rectal duplication cyst: a case report
Rectal duplication cysts are challenging to excise due to their close association with the native rectal wall, making safe identification of the dissection plane difficult. A 13-year-old male presented with abdominal fullness, intermittent severe pain, and decreased appetite, and was found on magnetic resonance imaging to have a 19 x 18 x 12 cm abdominopelvic cystic lesion initially suspected to be a lymphatic malformation. He underwent laparoscopic exploration, which revealed a rectal duplication cyst. During dissection, intermittent transanal endoscopic insufflation with a rigid sigmoidoscope was used to dynamically distinguish the rectum from the cyst wall and guide safe plane identification. Complete laparoscopic excision was achieved without rectal injury or conversion to open surgery. The postoperative course was uncomplicated, and the patient remains asymptomatic without complications at five-year follow-up. Intraoperative rigid sigmoidoscopy with intermittent insufflation is a simple and reproducible adjunct that facilitates identification of the dissection plane and may reduce the risk of rectal injury during laparoscopic excision of pediatric rectal duplication cysts. • Rectal duplication cyst excision is limited by difficult plane identification. • Sigmoidoscopy enables real-time visualization of the rectal lumen. • Endoscopic insufflation improves dissection and reduces rectal injury risk. • Technique is useful in older children where Hegar dilators are limited.
2026-05-01 | A rare case of colorectal duplication with rectourethral fistula in a child: diagnostic challenges and surgical management from Northwest Ethiopia.
Alimentary tract duplications are rare congenital anomalies. Colorectal duplication is particularly uncommon and may present with nonspecific features, posing diagnostic challenges. An association with rectourethral fistula is extremely rare. A 2-year-old male child presented with chronic constipation, abdominal distension, failure to thrive, and recurrent urinary tract infections. The later development of pneumaturia and fecaluria suggested an enterourinary fistula. Contrast enema demonstrated a reversed rectosigmoid ratio without a clear transition zone, initially raising suspicion for Hirschsprung disease. Voiding cystourethrography confirmed a rectourethral fistula. Surgical exploration revealed a duplicated sigmoid colon and rectum. Due to diagnostic uncertainty and poor nutritional condition of the child, a staged surgical approach was undertaken. Initial surgery involved diverting sigmoid colostomy and rectal biopsy. Histopathology excluded Hirschsprung disease. Definitive surgery included excision of the duplicated colorectal segment, pull-through reconstruction, and fistula repair. The postoperative course was uneventful with marked improvement in nutritional status and bowel function. Colorectal duplication with rectourethral fistula is a rare condition that may present with overlapping features of other colorectal disorders. Careful clinical evaluation, appropriate imaging, and staged surgical management are essential for optimal outcomes, particularly in resource-limited settings.
2026-02-06 | Double trouble: Rectoperineal fistula with rectal duplication and VACTERL association: A case report
Introduction Rectal duplications are rare congenital malformations, with approximately 100 cases reported in the literature. Only 12 of these involve concurrent anorectal malformations (ARMs). We report the case of rectal duplication with anterior rectoperineal fistula in an infant with VACTERL association. Case presentation A 20-day-old term female presented with failure to thrive and severe diaper rash. She was found to have a rectoperineal fistula on physical examination by a pediatric surgeon. VACTERL work-up revealed cardiac anomalies (VSD, PFO, PDA), left renal ectopia, low lying conus medullaris, and right hip dysplasia. She was taken to the operating room for an ASARP on day of life 26. Intra-operatively, a rectoperineal fistula was identified 1.5cm anterior to the sphincter complex. Dissection of the fistula revealed two openings: the rectoperineal fistula anteriorly and a blind pouch posteriorly, consistent with a rectal duplication. The fistula was dissected from the perineum anteriorly and laterally, while the rectal duplication was dissected from the perineum posteriorly. The common wall between the rectum and the rectal duplication was divided in the midline, creating a common channel between the rectum and the rectal duplication. The neo-anus was then fashioned and calibrated to a 12 Hagar dilator. Post-operatively, the patient resumed feeding and stooling without complications. She is now two years old and stooling normally. Conclusion Although rare, colorectal duplications can coexist with anorectal malformations.
2025-10-07 | Adult Rectal Duplication Cyst Presenting as Chronic Back Pain
Abstract Title Adult Rectal Duplication Cyst Presenting as Chronic Back Pain Background Alimentary tract duplications are rare congenital anomalies with an incidence of approximately 1 in 4,500 live births. They are most commonly identified in infancy or childhood. Rectal duplication cysts (RDCs), a particularly uncommon subtype, account for just 1%-6% of all alimentary tract duplications. These lesions typically present as cystic structures containing layers of gastrointestinal wall histology. While often asymptomatic, their presentation can vary significantly depending on patient age. In children, RDCs may present as bowel obstruction, recurrent perianal infections, or be discovered on physical examination. In contrast, adults may present with vague or unrelated symptoms, found incidentally on imaging. In rare cases, RDCs may become symptomatic due to compression of adjacent structures, infection, fistula formation, or even malignant transformation. Given their deep pelvic location and nonspecific symptomatology, they are often misdiagnosed or overlooked. Reports of RDCs in adults are rare, and their varied presentation poses significant challenges in diagnosis and management. We present the case of an adult woman who presented with chronic back pain and was found to have an RDC, emphasizing the importance of considering congenital anomalies in the differential diagnosis of pelvic masses in adults. Case Presentation A 41-year-old female presented with a five-year history of low back pain radiating to both legs, initially attributed to lumbar radiculopathy. She denied gastrointestinal or urinary symptoms. On physical examination, a firm mass was palpated posterior to the rectum. Pelvic MRI revealed a 7 cm heterogenous mass in the presacral space. CT showed the posterior pelvic mass abutting the distal coccyx without involving the sacrum. Given the concern for malignancy, she underwent robotic-assisted laparoscopic resection. Intraoperatively, a 5-6 cm well-encapsulated presacral mass was identified and excised via a Pfannenstiel incision. She was discharged home the same day without complications. Histopathologic analysis revealed squamous epithelium overlying smooth muscle and connective tissue, consistent with a benign rectal duplication cyst. Discussion Adult RDCs are rare and often present with nonspecific symptoms, making diagnosis difficult. MRI is preferred for soft tissue evaluation, while CT can assess for bony involvement. Complete surgical resection remains the definitive treatment and diagnostic modality. Robotic resection offers superior visualization with improved post-operative pain. This case emphasizes the need to include RDCs in the differential diagnosis of chronic pelvic or back pain in adults.
2025-09-08 | A rare case of complex perineal anomaly in a male neonate: Multistage surgical management.
We present a rare case of a full-term male neonate with a complex perineal anomaly featuring a mucosa-lined cleft extending from the penile base to the right gluteal fold, accompanied by penoscrotal transposition, hemiscrotal hypoplasia, and hypospadias. The lesion's anatomical and histological characteristics suggest antenatal rupture of a rectal duplication cyst. This report highlights the diagnostic challenges of exteriorized rectal duplications and underscores the importance of multistage reconstruction for optimal functional and cosmetic outcomes.
small molecules
2026-04-03 | Abstract 6619: Inhibition of PLK4 overcomes radioresistance in locally advanced rectal cancer through genomic instability and apoptotic cell death.
Abstract Background: Polo-like kinase 4 (PLK4), a key regulator of centrosome duplication, has been implicated in cancer progression and therapeutic resistance. Although PLK4 overexpression is frequently observed in various malignancies, its functional contribution to radiotherapy (RT) response in colorectal cancer (CRC) remains poorly understood. Methods: To investigate whether PLK4 inhibition enhances radiosensitivity, CRC cell lines HCT116 (p53 wild-type) and HT29 (p53 mutant) were treated with the selective PLK4 inhibitor CFI-400945, RT or their combination. Cell viability and clonogenic assays were performed to evaluate cytotoxicity. DNA damage responses were assessed by γH2AX immunofluorescence and Western blot analysis of p-ATM, p-CHK2, and DNA-PKcs. Cell-cycle profiles and centrosomal abnormalities were examined by flow cytometry and γ-tubulin staining, respectively. Apoptosis was determined through cleaved PARP-1 and caspase-3 expression levels. Results: CFI-400945 treatment reduced cell viability in a dose- and time-dependent manner and significantly enhanced the cytotoxic effects of RT in both CRC cell lines. Combined treatment markedly increased γH2AX foci formation and upregulated DNA damage response proteins, including p-ATM, p-CHK2, and DNA-PKcs. PLK4 inhibition also induced centrosome amplification, micronuclei formation, and multinucleation, indicating mitotic defects leading to genomic instability. Furthermore, the combination therapy enhanced G2/M arrest and apoptosis, as evidenced by elevated levels of cleaved PARP-1 and caspase-3. Conclusions: PLK4 inhibition sensitizes colorectal cancer cells to radiation by promoting DNA damage accumulation, mitotic catastrophe, and apoptotic cell death. These findings suggest that targeting PLK4 may serve as a potential therapeutic strategy to overcome radioresistance in CRC. Citation Format: Sung Uk Bae, Jeong-Woo Hwang, Hyewon Lee, Hyowon Hong, Sang Jun Byun. Inhibition of PLK4 overcomes radioresistance in locally advanced rectal cancer through genomic instability and apoptotic cell death [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 6619.
2014-09-30 | Sacrococcygeal teratoma associated with hindgut duplication: A case report & review of literature
The index case report describes a previously unreported coexistence of sacrococcygeal teratoma and a tubular duplication of the rectum. The child presented with a large sacrococcygeal mass. He was treated with pre-operative chemotherapy to reduce the bulk of the tumor and subsequently underwent surgical resection. Exploration surprisingly revealed an additional long tubular duplication of the rectum, which did not share any lumen with the parent gut. The duplication cyst and the residual tumor were excised. The histopathology report confirmed residual mature teratoma and the duplication cyst. Relevant literature is reviewed.
2014-03-13 | Obscure bleeding colonic duplication responds to proton pump inhibitor therapy.
We report the case of a 17-year-old male admitted to our academic hospital with massive rectal bleeding. Since childhood he had reported recurrent gastrointestinal bleeding and had two exploratory laparotomies 5 and 2 years previously. An emergency abdominal computed tomography scan, gastroscopy and colonoscopy, performed after hemodynamic stabilization, were considered normal. High-dose intravenous proton pump inhibitor (PPI) therapy was initiated and bleeding stopped spontaneously. Two other massive rectal bleeds occurred 8 h after each cessation of PPI which led to a hemostatic laparotomy after negative gastroscopy and small bowel capsule endoscopy. This showed long tubular duplication of the right colon, with fresh blood in the duplicated colon. Obscure lower gastrointestinal bleeding is a difficult medical situation and potentially life-threatening. The presence of ulcerated ectopic gastric mucosa in the colonic duplication explains the partial efficacy of PPI therapy. Obscure gastrointestinal bleeding responding to empiric anti-acid therapy should probably evoke the diagnosis of bleeding ectopic gastric mucosa such as Meckel's diverticulum or gastrointestinal duplication, and gastroenterologists should be aware of this potential medical situation.
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