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Braungart S, Daff C. Expect the unexpected: neuroblastoma in a patient with the VACTERL association. BMJ Case Rep 2025; 18:e265123. [PMID: 40199601 DOI: 10.1136/bcr-2025-265123] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/10/2025] Open
Abstract
The VACTERL association is characterised by a variable combination of vertebral defects, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities. Malignant tumours are not usually detected in these patients.We present the case of an infant diagnosed with the VACTERL association at birth due to an anorectal malformation, cardiac and vertebral anomalies. Further imaging was obtained to investigate potential spinal cord anomalies. This scan detected an incidental left adrenal mass. Diagnostic work-up including biopsy confirmed the adrenal mass as an intermediate risk left adrenal neuroblastoma with encasement of the left renal vessels and superior mesenteric artery.To our knowledge, this is the first case of an infant patient with the VACTERL association and simultaneous diagnosis of a neuroblastoma. This case demonstrates how careful expert review of specialist imaging can incidentally reveal unexpected findings which require a significant alteration of a patient's treatment pathway.
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Affiliation(s)
- Sarah Braungart
- Paediatric Surgery, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK
| | - Caitlin Daff
- Paediatric Surgery, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK
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2
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Srinivas S, Booth K, Kasubick-Tillman S, Huskisson M, Griffin KL, Thomas E, Su M, Wood RJ, DaJusta DG, Fuchs ME. Annual Renal Surveillance with Ultrasound in All Anorectal Malformations May Not Be Necessary. J Pediatr Surg 2025:162318. [PMID: 40204267 DOI: 10.1016/j.jpedsurg.2025.162318] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/16/2025] [Accepted: 03/31/2025] [Indexed: 04/11/2025]
Abstract
BACKGROUND Children with anorectal malformations (ARMs) are at risk of renal anomalies. Therefore, we obtain annual renal ultrasounds (RUS) regardless of symptoms or complexity. The utility of aggressive screening in all ARM is unknown. Thus, we aimed to determine outcomes in children with all ARM managed on this protocol. METHODS We performed a single-institution review of children managed at a large pediatric colorectal center from 2014 - 2023 with less severe ARM (rectoperineal fistula, rectovaginal fistula, rectovestibular fistula, rectal/anal stenosis, and rectal atresia) with RUS obtained within 2 years of primary repair. We evaluated all RUS before and after repair. Demographics and clinical variables were collected, and descriptive statistics were computed. RESULTS There were 333 children meeting inclusion criteria; 197 had a postoperative RUS within two years of repair. Most (70.1%) had a normal first postoperative RUS, and only four (2.0%) progressed to become abnormal on subsequent studies. Only one of these patients (0.5%) was asymptomatic at the time of RUS and had a finding necessitating further intervention. Children with an initially normal RUS underwent a median of 3 further RUS [IQR: 2-4], with 33 children (24.6%) undergoing five or more normal RUS. Overall, 197 children with a normal postoperative RUS needed to be screened yearly to find one asymptomatic renal anomaly. CONCLUSION In a large cohort of children with mild ARM, only one child (0.5%) benefited from screening RUS with an asymptomatic renal anomaly requiring intervention, suggesting that if RUS after primary repair of a mild ARM is normal, additional screening of the asymptomatic patient is not necessary. LEVEL OF EVIDENCE III = Retrospective Comparative Study.
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Affiliation(s)
- Shruthi Srinivas
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Kristina Booth
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Urology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Susan Kasubick-Tillman
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Urology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Molly Huskisson
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Urology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Kristine L Griffin
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Elizabeth Thomas
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Madeline Su
- College of Medicine, The Ohio State University, 370 W 9(th) Ave, Columbus, OH, 43210, USA
| | - Richard J Wood
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Daniel G DaJusta
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Urology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
| | - Molly E Fuchs
- Department of Colorectal and Pelvic Reconstruction Surgery, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Urology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
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Xu TO, Hanke RE, Das K, Bowser M, Hisam B, Samuk I, Wissanji H, Teeple E, Mayhew A, Myseros JS, Badillo A, Levitt MA, Varda BK, Feng C. VACTERL Screening in Newborns With Anorectal Malformations - An Opportunity to Optimize Screening Practices, add Gynecologic and Spinal Conditions, and Utilize a New Acronym: VACTE(G)RLS. J Pediatr Surg 2025:162252. [PMID: 40032536 DOI: 10.1016/j.jpedsurg.2025.162252] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2024] [Revised: 02/12/2025] [Accepted: 02/14/2025] [Indexed: 03/05/2025]
Abstract
INTRODUCTION Spinal cord and gynecologic anomalies may be overlooked as part of the traditional VACTERL screening for patients with anorectal malformations (ARM). We investigated the rates of associated anomalies in patients with ARM using the Pediatric Health Information Systems (PHIS) database. METHODS A retrospective multi-institutional cohort study was performed between 1/2016-12/2022. ARM patients were identified using ICD10 diagnosis and procedure codes. We assessed the rate of associated anomaly diagnosis at a patient's initial newborn admission and across all hospital encounters using ICD10 diagnosis codes. RESULTS 1467 patients (34 % female) were observed across 46 hospitals. The rates of VACTERL diagnoses on initial admission were 35.0 % vertebral/spinal, 72.9 % cardiac, 9.5 % TEF, 34.7 % renal, and 13.3 % limb. Diagnosis rates were all higher across all hospital encounters: 45.4 % vertebral/spinal, 77.4 % cardiac, 10.2 % TEF, 39.9 % renal, and 15.7 % limb. Among female patients, 16.1 % had a congenital gynecologic malformation diagnosed at birth and 25.8 % across all hospital encounters. Among sub-category diagnoses, the rates of lower Mullerian tract malformations (+11 %), spinal cord malformations (+12 %), and vesicoureteral reflux (+14 %) had the greatest discrepancy between newborn diagnosis and diagnosis across all hospital encounters on a one-tailed comparison of proportions (all p < 0.001) CONCLUSION: The most commonly associated anomalies in ARM are cardiac, vertebral/spinal, renal, and gynecologic (in females). Many are diagnosed as newborns however some are diagnosed later, suggesting an opportunity to improve screening, especially with spinal cord and gynecologic malformations. We suggest changing the VACTERL acronym to VACTE(G)RLS to emphasize the importance and frequency of these malformations in patients with ARM. LEVEL OF EVIDENCE Observational study, III. STUDY TYPE Multi-institutional retrospective cohort IRB APPROVAL: STUDY00000902.
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Affiliation(s)
- Thomas O Xu
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA.
| | - Rachel E Hanke
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Kirsten Das
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Melanie Bowser
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Butool Hisam
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Inbal Samuk
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA; Division of Colorectal Surgery, Schneider Children's Medical Center, Tel Aviv University, Tel Aviv, Israel
| | - Hussein Wissanji
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA; Harvey E. Beardmore Division of Pediatric Surgery, The Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada
| | - Erin Teeple
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Allison Mayhew
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - John S Myseros
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Andrea Badillo
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Marc A Levitt
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA; Division of Colorectal Surgery, Schneider Children's Medical Center, Tel Aviv University, Tel Aviv, Israel
| | - Briony K Varda
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
| | - Christina Feng
- Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC, USA
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Huijgen D, Versteegh HP, Wijnen RMH, Galjaard S, Peters NCJ, Sloots CEJ. Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes. Prenat Diagn 2025; 45:35-43. [PMID: 39638634 PMCID: PMC11717739 DOI: 10.1002/pd.6723] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/04/2024] [Revised: 11/25/2024] [Accepted: 11/26/2024] [Indexed: 12/07/2024]
Abstract
OBJECTIVE This study explored prenatal ultrasound markers in patients with anorectal malformations (ARMs). METHODS All patients treated for ARM in our institution from January 2014 to December 2021 with an available expert fetal anomaly scan (eFAS) were reviewed. The eFAS images were assessed to evaluate the fetal anus, specifically by identifying hyperechoic anal mucosa surrounded by hypoechoic anal sphincter, referred to as "target sign" (TS). Furthermore, indirect signs of ARM were assessed and correlated with postnatal clinical symptoms. RESULTS Of the 115 patients treated for ARM, 32 mothers underwent eFAS. TS was assessed in 22 fetuses, of which 17 (77.3%) had an absent or abnormal TS. Of the patients with a postnatally confirmed complex type of ARM, 90% had an absent or abnormal TS. One or more indirect signs of ARM were found in 16 out of 32 fetuses (50.0%), comprising echogenic bowel (n = 3), echogenic meconium (n = 2), dilated intestines (n = 7), echo-lucent cavity behind the urinary bladder (n = 4), abnormal external genitalia (n = 6), and polyhydramnios (n = 5). CONCLUSION This retrospective cohort study provides valuable insights into the potential role of TS assessment and indirect signs in the prenatal diagnosis of ARM. Future studies should further validate our findings and elicit whether TS assessment should be incorporated into prenatal screening protocols.
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Affiliation(s)
- D. Huijgen
- Department of Pediatric SurgeryErasmus MC SophiaRotterdamThe Netherlands
| | - H. P. Versteegh
- Department of Pediatric SurgeryErasmus MC SophiaRotterdamThe Netherlands
| | - R. M. H. Wijnen
- Department of Pediatric SurgeryErasmus MC SophiaRotterdamThe Netherlands
| | - S. Galjaard
- Department of Obstetrics and GynecologySubdivision of Obstetrics and Fetal MedicineErasmus MC SophiaRotterdamThe Netherlands
| | - N. C. J. Peters
- Department of Obstetrics and GynecologySubdivision of Obstetrics and Fetal MedicineErasmus MC SophiaRotterdamThe Netherlands
| | - C. E. J. Sloots
- Department of Pediatric SurgeryErasmus MC SophiaRotterdamThe Netherlands
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Wondemagegnehu BD, Asfaw SW, Mamo TN, Aklilu WK, Robelie AT, Gebru FT, Gebreselassie HG. Incidence of associated anomalies in children with anorectal malformation: A 1-year prospective observational study in a low-income setting. Medicine (Baltimore) 2024; 103:e39811. [PMID: 39312317 PMCID: PMC11419488 DOI: 10.1097/md.0000000000039811] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/23/2023] [Accepted: 09/01/2024] [Indexed: 09/25/2024] Open
Abstract
Anorectal malformations (ARMs) consist of a range of anomalies that are often associated with other anomalies The purpose of the study is to assess the incidence of associated congenital anomalies that are seen in patients with ARMs. An observational prospective study was conducted on 162 cases with ARM from February 2019 to January 2020, and data were collected on patient demographics, type of ARM, and associated anomalies using a prestructured questionnaire and analysis done using SPSS (IBM), version 23, software. Relevant statistical analysis was done, and the results are presented in tables and charts. Of 162 cases studied, 70 of them were males and 92 were females with a male-to-female ratio of 0.76:1. The majority of male patients (45%) had rectourethral fistulas, whereas 63% of the females had rectovestibular fistula. While 76 (47%) patients presented with isolated ARM, 86 (53%) had ≥1 associated congenital malformations. Forty-eight (30%) patients presented with a single associated anomaly, whereas 20 (12%) patients had≥3 associated anomalies. The commonest associated anomalies were urologic 26.5% followed by genital (22.8%), cardiac 20.4%, and musculoskeletal 16.6%, and 12.3% of them had vertebral; anorectal; cardiac; tracheoesophageal fistula; renal; limb association. More than half of the children have other associated abnormalities. We found urogenital anomalies to be the most common associated congenital defects. A lower incidence of cardiac and spinal cord anomalies was noted suggesting a need for active workup to be in line with the latest standards of care.
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Affiliation(s)
- Belachew Dejene Wondemagegnehu
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
| | - Solomon Wubetu Asfaw
- Department of Surgery, Unit of Pediatric Surgery, College of Health Sciences, Jig Jiga University, Jig Jiga, Ethiopia
| | - Tihtina Nigussie Mamo
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
| | - Woubedel Kiflu Aklilu
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
| | - Amezene Tadess Robelie
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
| | - Fisseha Temesgen Gebru
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
| | - Hanna Getachew Gebreselassie
- Department of Surgery, Division of Pediatric Surgery, Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia
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van der Steeg HJJ, Luijten JCHBM, Fascetti-Leon F, Miserez M, Samuk I, Stenström P, de Wall LL, de Blaauw I, van Rooij IALM. High-grade Vesicoureteral Reflux in Patients With Anorectal Malformation From the ARM-Net Registry: Is Our Screening Sufficient? J Pediatr Surg 2024; 59:1470-1476. [PMID: 38355337 DOI: 10.1016/j.jpedsurg.2024.01.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/13/2023] [Revised: 12/24/2023] [Accepted: 01/09/2024] [Indexed: 02/16/2024]
Abstract
BACKGROUND Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors. METHODS A multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR. RESULTS This study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6-4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1-5.3). CONCLUSIONS Although renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure. TYPE OF STUDY Observational Cohort-Study. LEVEL OF EVIDENCE III.
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Affiliation(s)
- H J J van der Steeg
- Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands.
| | - J C H B M Luijten
- Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands
| | - F Fascetti-Leon
- Department of Pediatric Surgery, University of Padua, Padua, Italy
| | - M Miserez
- Department of Abdominal Surgery, UZ Leuven, KU Leuven, Belgium
| | - I Samuk
- Department of Pediatric Surgery, Schneider Children's Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - P Stenström
- Department of Pediatrics, Clinical Sciences Lund University, Skane University Hospital Lund, Sweden
| | - L L de Wall
- Department of Urology, Division of Pediatric Urology, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands
| | - I de Blaauw
- Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands
| | - I A L M van Rooij
- Department for Health Evidence, Radboud University Medical Center Nijmegen, the Netherlands
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Moras P, Zarfati A, Bagolan P, Conforti A, Toscano A, Iacobelli BD. Anorectal malformations (ARM) and VACTERL association and severity of congenital heart diseases (CHD): Experience of 396 consecutive patients in a tertiary center. Pediatr Neonatol 2024; 65:381-385. [PMID: 38163746 DOI: 10.1016/j.pedneo.2023.08.011] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/03/2023] [Revised: 08/05/2023] [Accepted: 08/24/2023] [Indexed: 01/03/2024] Open
Abstract
OBJECTIVE Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. STUDY DESIGN All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. RESULTS Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). CONCLUSIONS Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. LEVEL OF EVIDENCE III retrospective comparative study.
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Affiliation(s)
- Patrizio Moras
- Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Angelo Zarfati
- Neonatal Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.
| | - Pietro Bagolan
- Neonatal Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy
| | - Andrea Conforti
- Neonatal Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Alessandra Toscano
- Perinatal Cardiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
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Srinivas S, Gasior A, Driesbach S, DeBacco N, Pruitt LCC, Trimble C, Zahora P, Mueller CM, Wood RJ. Development of a Standardized Algorithm for Management of Newly Diagnosed Anorectal Malformations. CHILDREN (BASEL, SWITZERLAND) 2024; 11:494. [PMID: 38671711 PMCID: PMC11049553 DOI: 10.3390/children11040494] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/19/2024] [Revised: 04/08/2024] [Accepted: 04/19/2024] [Indexed: 04/28/2024]
Abstract
Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.
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Affiliation(s)
- Shruthi Srinivas
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
- Department of Pediatric Surgery, Nationwide Children’s Hospital, Columbus, OH 43205, USA
| | - Alessandra Gasior
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
| | - Sarah Driesbach
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
| | - Natalie DeBacco
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
| | - Liese C. C. Pruitt
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
- Department of Pediatric Surgery, Nationwide Children’s Hospital, Columbus, OH 43205, USA
| | - Casey Trimble
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
| | - Pooja Zahora
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
| | - Claudia M. Mueller
- Department of Pediatric Surgery, Stanford Children’s Hospital, Stanford, CA 94304, USA
| | - Richard J. Wood
- Department of Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, 611 E. Livingston Ave., Columbus, OH 43205, USA
- Department of Pediatric Surgery, Nationwide Children’s Hospital, Columbus, OH 43205, USA
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9
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Li Y, Liu P, Wang W, Jia H, Bai Y, Yuan Z, Yang Z. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1. Pediatr Res 2024; 95:1246-1253. [PMID: 38135728 DOI: 10.1038/s41390-023-02928-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/29/2023] [Revised: 11/02/2023] [Accepted: 11/16/2023] [Indexed: 12/24/2023]
Abstract
The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1-23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication. IMPACT: This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1-23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1-23.3 deletion and 12q23.1 duplication.
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Affiliation(s)
- Yue Li
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
| | - Peiqi Liu
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
| | - Weilin Wang
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
| | - Huimin Jia
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
| | - Yuzuo Bai
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
| | - Zhengwei Yuan
- Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
| | - Zhonghua Yang
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
- Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
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10
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Hageman IC, Midrio P, van der Steeg HJJ, Jenetzky E, Iacobelli BD, Morandi A, Sloots CEJ, Schmiedeke E, Broens PMA, Fascetti Leon F, Çavuşoğlu YH, Gorter RR, Trajanovska M, King SK, Aminoff D, Schwarzer N, Haanen M, de Blaauw I, van Rooij IALM. The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics. Br J Surg 2024; 111:znae019. [PMID: 38364059 PMCID: PMC10870250 DOI: 10.1093/bjs/znae019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2023] [Revised: 10/30/2023] [Accepted: 11/14/2023] [Indexed: 02/18/2024]
Affiliation(s)
- Isabel C Hageman
- Department of Pediatric Surgery, Radboudumc Amalia Children’s Hospital, Nijmegen, The Netherlands
- Surgical Research, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
| | - Paola Midrio
- Pediatric Surgery Unit, Cà Foncello Hospital, Treviso, Italy
| | | | - Ekkehart Jenetzky
- Department of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center of Johannes Gutenberg-University, Mainz, Germany
- Department of Medicine, Faculty of Health, Witten/Herdecke University, Witten, Germany
| | - Barbara D Iacobelli
- Medical and Surgical Department of the Fetus-Newborn-Infant, Ospedale Bambin Gesù, Rome, Italy
| | - Anna Morandi
- Department of Pediatric Surgery, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Cornelius E J Sloots
- Department of Pediatric Surgery, Erasmus Medical Center–Sophia Children’s Hospital, Rotterdam, The Netherlands
| | - Eberhard Schmiedeke
- Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany
| | - Paul M A Broens
- Department of Surgery, Division of Pediatric Surgery, University Medical Center Groningen, Groningen, The Netherlands
| | | | - Yusuf H Çavuşoğlu
- Department of Pediatric Surgery, Gazi University Faculty of Medicine, Ankara, Turkey
| | - Ramon R Gorter
- Department of Pediatric Surgery, Emma Children’s Hospital Amsterdam UMC, Location University of Amsterdam, Amsterdam, The Netherlands
- Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, The Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
| | - Misel Trajanovska
- Surgical Research, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
- Department of Paediatrics, University of Melbourne, Melbourne, Australia
| | - Sebastian K King
- Surgical Research, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
- Department of Paediatrics, University of Melbourne, Melbourne, Australia
- Department of Paediatric Surgery, The Royal Children’s Hospital, Melbourne, Victoria, Australia
| | - Dalia Aminoff
- AIMAR—Associazione Italiana Malformazioni AnoRettali, Rome, Italy
| | - Nicole Schwarzer
- SOMA—Selfhelp Organization for People with Anorectal Malformations e.V., Munich, Germany
| | - Michel Haanen
- VA-Dutch Patient Organization for Anorectal Malformations, Huizen, The Netherlands
| | - Ivo de Blaauw
- Department of Pediatric Surgery, Radboudumc Amalia Children’s Hospital, Nijmegen, The Netherlands
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11
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de Beaufort CMC, Boom DT, Mackay TM, Dekker JJML, Arguedas Flores OE, de Jong JR, Kuijper CF, Gorter RR. Potential benefits of routine cystoscopy and vaginoscopy prior to reconstructive surgery in patients with an anorectal malformation. Pediatr Surg Int 2023; 39:284. [PMID: 37889354 PMCID: PMC10611826 DOI: 10.1007/s00383-023-05565-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 10/07/2023] [Indexed: 10/28/2023]
Abstract
PURPOSE First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications. METHODS Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients. Chi-square was used to compare the screening percentages over time. RESULTS In total, 38 patients were included, of whom 27 (71.1%) underwent cystoscopy ± vaginoscopy, without the occurrence of complications. Nine of 13 females (69.2%) underwent cysto- and vaginoscopy and 18 of 25 males (72.0%) underwent a cystoscopy. The percentage of patients that underwent these procedures improved over the 2 time periods (50.0% in 2019-2020 vs 90.0% in 2021-2022, p = 0.011). In 15 of 27 patients (55.6%) that underwent cystoscopy ± vaginoscopy, additional anomalies were found that were not identified through physical examination or US-kidney. CONCLUSIONS In 56% of the patients that underwent cysto- ± vaginoscopy, additional anomalies were identified that were not with imaging studies or physical examination. This study emphasizes the potential benefit of routine cysto- and vaginoscopy in the diagnostic work-up of children with ARM. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Cunera M C de Beaufort
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.
| | - Daphne T Boom
- Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Tara M Mackay
- Amsterdam UMC, Department of Surgery, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Judith J M L Dekker
- Amsterdam UMC, Department of Gynecology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Olga E Arguedas Flores
- Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Justin R de Jong
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands
| | - Caroline F Kuijper
- Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Ramon R Gorter
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands
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12
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Farrokhkhani P, Farhadi R, Ala S, Mousavi SA. Etiology and Outcome of Intestinal Obstruction in Neonates: A 5-Year Investigation of Admitted Cases From a Tertiary Neonatal Intensive Care Unit in Northern Iran. Clin Med Insights Pediatr 2023; 17:11795565231196771. [PMID: 37712054 PMCID: PMC10498696 DOI: 10.1177/11795565231196771] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2023] [Accepted: 08/08/2023] [Indexed: 09/16/2023] Open
Abstract
Background Neonatal intestinal obstruction is a challenging issue, especially in developing countries. There is an apparent difference in the etiology, complications, and mortality of intestinal obstruction in neonates in different countries. Objectives We aimed to describe the causes, early postoperative outcomes, and predictors of morbidities in neonates with intestinal obstruction in a tertiary neonatal intensive care unit (NICU) in Iran. Design & methods We conducted a retrospective study on neonates who were admitted with intestinal obstruction requiring surgery in the NICU of Boo-Ali Sina Hospital in northern Iran during 2018 to 2022. Demographic and clinical characteristics of the newborns, final diagnosis, postoperative complications, and mortality rate were documented. Also, the relationship between postoperative complications and risk factors, including birth weight, gestational age, and surgical intervention time, was evaluated. Results A total of 169 neonates with intestinal obstruction requiring surgery were admitted with a male ratio of 60.9% and mean age of 3.85 ± 8.01 days. Imperforate anus with a prevalence of 42% was the most common cause of neonatal intestinal obstruction, followed by Hirschsprung's disease and duodenal atresia. Death after surgery occurred in 4.1% of the patients. Sepsis with a prevalence of 1.4% was the most common early postoperative complication. The late surgical intervention had a statistically significant relationship with the increase in postoperative sepsis (P = .048). Conclusion The time of surgical intervention is the main predictor of complications in neonatal intestinal obstruction, so prompt diagnosis and timely treatment of these babies can significantly improve the prognosis. It is also necessary to improve access to pediatric surgery services in developing countries.
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Affiliation(s)
| | - Roya Farhadi
- Pediatrics Department, Mazandaran University of Medical Sciences, Sari, Iran
| | - Saleheh Ala
- Pediatrics Department, Mazandaran University of Medical Sciences, Sari, Iran
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13
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de Beaufort CMC, van den Akker ACM, Kuijper CF, Broers CJM, de Jong JR, de Beer SA, Straver B, Zwijnenburg PJG, Gorter RR. The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study. J Pediatr Surg 2023; 58:1699-1707. [PMID: 36586784 DOI: 10.1016/j.jpedsurg.2022.11.010] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/21/2022] [Revised: 11/13/2022] [Accepted: 11/18/2022] [Indexed: 11/27/2022]
Abstract
BACKGROUND In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period. METHODS A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions. RESULTS In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found. CONCLUSIONS The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Cunera M C de Beaufort
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.
| | - Alex C M van den Akker
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands
| | - Caroline F Kuijper
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Urology, Meibergdreef 9, Amsterdam, the Netherlands
| | - Chantal J M Broers
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, Amsterdam, the Netherlands
| | - Justin R de Jong
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
| | - Sjoerd A de Beer
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands
| | - Bart Straver
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Cardiology, Meibergdreef 9, Amsterdam, the Netherlands
| | - Petra J G Zwijnenburg
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Meibergdreef 9, Amsterdam, the Netherlands
| | - Ramon R Gorter
- Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands
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14
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Reppucci ML, Alaniz VI, Wehrli LA, Torre LDL, Wood D, Wilcox DT, Appiah LC, Peña A, Bischoff A. Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations. J Pediatr Surg 2023; 58:1450-1457. [PMID: 36229236 DOI: 10.1016/j.jpedsurg.2022.09.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/15/2022] [Revised: 09/04/2022] [Accepted: 09/12/2022] [Indexed: 11/16/2022]
Abstract
BACKGROUND Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM. METHODS A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected. RESULTS There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies. CONCLUSIONS Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs. LEVEL OF EVIDENCE IV.
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Affiliation(s)
- Marina L Reppucci
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Veronica I Alaniz
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Section of Pediatric and Adolescent Gynecology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Lea A Wehrli
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Luis de La Torre
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Dan Wood
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Duncan T Wilcox
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Leslie C Appiah
- Section of Pediatric and Adolescent Gynecology, Children's Hospital Colorado, Aurora, CO 80045, USA
| | - Alberto Peña
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA
| | - Andrea Bischoff
- International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Anschutz Medical Campus, Aurora, CO 80045, USA.
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15
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Wehrli LA, Reppucci ML, Woodfield K, Ketzer J, Rieck JM, Cooper EH, De La Torre L, Pena A, Bischoff A, Alaniz VI. Fertility concerns and outcomes in females with anorectal malformations. Pediatr Surg Int 2023; 39:228. [PMID: 37422894 DOI: 10.1007/s00383-023-05510-1] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/29/2023] [Indexed: 07/11/2023]
Abstract
PURPOSE To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM). METHODS This is an IRB approved, cross-sectional study of patients in the Adult Colorectal Research Registry who completed reproductive health surveys between November 2021 and August 2022. Patients assigned female at birth with age 18 or older and ARM were included. RESULTS Sixty-four patients with ARM, age 18 or older, were included. Fertility concerns were reported in 26 (40.6%) patients, 11 of which had seen a fertility specialist, including four who had not yet tried to conceive. Fertility concerns were highest amongst cloaca patients who had not yet tried to conceive (37.5%). 26 (40.6%) patients had tried to conceive, of which 16 (25%) reported fertility problems, most frequently uterine abnormalities and damaged or blocked fallopian tubes. 22 (34.4%) participants were able to conceive and 18 (28.1%) had at least one live birth. Patients with ARM who had concerns of fertility, had better FertiQoL when compared to published reference scores for patients experiencing fertility issues. CONCLUSION Providers should be aware of fertility concerns in patients with ARM. Proactive counseling with referrals to a fertility specialist should be considered in patients who desire future fertility.
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Affiliation(s)
- Lea A Wehrli
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Marina L Reppucci
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Kellie Woodfield
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Jill Ketzer
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Jared M Rieck
- Research in Outcomes for Children's Surgery, Center for Children's Surgery, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, USA
| | - Emily H Cooper
- Research in Outcomes for Children's Surgery, Center for Children's Surgery, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, USA
| | - Luis De La Torre
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Alberto Pena
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Andrea Bischoff
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA
| | - Veronica I Alaniz
- International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA.
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16
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Fan J, Liu M, Lin Y, He Y, Fang Y. Anorectal malformation combined with Hirschsprung's disease: a case report. Front Pediatr 2023; 11:1182342. [PMID: 37292375 PMCID: PMC10244652 DOI: 10.3389/fped.2023.1182342] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2023] [Accepted: 05/04/2023] [Indexed: 06/10/2023] Open
Abstract
Anorectal malformation (ARM) and Hirschsprungs disease (HSCR) are frequently associated with other congenital malformations, but rarely with one another. We describe the case of a child with intermediate anorectal malformation who underwent ARM correction. This child experienced recurrent postoperative symptoms, including intestinal obstruction, nutrition intolerance, and weight loss. The child was diagnosed with Hirschsprung's disease by colon barium contrast and pathological findings from a rectal biopsy, and subsequently underwent pull -through procedure after conservative treatment failed. After six months of postoperative follow-up, the patient still experiences occasional episodes of enteritis, but the symptoms are substantially less severe than they were before surgery, and the patient's weight is slowly increasing. We described a case of a child who had ARM combined with HSCR. Although the association between ARM and HSCR is uncommon, severe constipation or enteritis following complete correction of ARM in the absence of anal stricture should prompt consideration for HSCR. Before the second stage of ARM surgery, pay close attention to the barium enema examination, as an abnormal shape may indicate the presence of HSCR.
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17
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Garvey EM, Fuller M, Frischer J, Calkins CM, Rentea RM, Ralls M, Wood R, Rollins MD, Avansino J, Reeder RW, Durham MM. Multi-Institutional Review From the Pediatric Colorectal and Pelvic Learning Consortium of Minor Spinal Cord Dysraphism in the Setting of Anorectal Malformations: Diagnosis, Treatment, and Outcomes. J Pediatr Surg 2023:S0022-3468(23)00251-8. [PMID: 37248140 DOI: 10.1016/j.jpedsurg.2023.04.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/17/2023] [Accepted: 04/18/2023] [Indexed: 05/31/2023]
Abstract
BACKGROUND/RATIONALE Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear. MATERIALS/METHODS A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization. RESULTS 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified. CONCLUSIONS MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients. TYPE OF STUDY Retrospective Comparative Study. LEVEL OF EVIDENCE III.
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Affiliation(s)
- Erin M Garvey
- Phoenix Children's Hospital, 1919 E. Thomas Road, Phoenix, AZ, 85106, USA
| | - Megan Fuller
- Boys Town National Research Hospital, 14040 Boys Town Hospital Rd, Omaha, NE, 68010, USA
| | | | - Casey M Calkins
- Children's Hospital of Wisconsin, 999 N. 92nd Street, Milwaukee, WI, 53226, USA
| | - Rebecca M Rentea
- Children's Mercy Kansas City, University of Missouri- Kansas City, Kansas City, MO, 64108, USA
| | - Matthew Ralls
- C.S. Mott Children's Michigan University of Michigan, 1540 E. Hospital Drive, Ann Arbor, MI, 48109, USA
| | - Richard Wood
- Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA
| | - Michael D Rollins
- Primary Children's Hospital, University of Utah, 100 N. Mario Capecchi Drive, Salt Lake City, UT, 84113, USA
| | - Jeffrey Avansino
- Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA
| | - Ron W Reeder
- Data Coordinating Center, University of Utah, 295 Chipeta Way, Salt Lake City, UT, 84108, USA
| | - Megan M Durham
- Division of Pediatric Surgery, Emory University School of Medicine and Children's Healthcare of Atlanta, 1405 Clifton Road NE, 3rd Floor, Tower 1, Pediatric Surgical Suite, Atlanta, GA, 30322, USA.
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18
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de Beaufort CMC, Groenveld JC, Mackay TM, Slot KM, de Beer SA, de Jong JR, van Schuppen J, McDonald CJ, Bakker DP, van den Berg E, Kuijper CF, Gorter RR. Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study. Pediatr Surg Int 2023; 39:153. [PMID: 36934393 PMCID: PMC10025224 DOI: 10.1007/s00383-023-05440-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/10/2023] [Indexed: 03/20/2023]
Abstract
PURPOSE First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI). Second, to report outcomes after TSC treatment. METHODS A retrospective mono-center study was performed. All ARM patients born between January 2000 and December 2021 were included. Screening for SCA consisted of spinal cord US and/or MRI. Radiology reports were scored on presence of SCA. Data were presented with descriptive statistics. RESULTS In total, 254 patients were eligible for inclusion, of whom 234 (92.1%) underwent spinal cord imaging. In total, 52 (22.2%) patients had a SCA, diagnosed with US (n = 20, 38.5%), MRI (n = 10, 19.2%), or both US and MRI (n = 22, 42.3%), of whom 12 (23.5%) with simple, 27 (52.7%) intermediate, and 12 (23.5%) complex ARM types. TSC was identified in 19 patients (8.1%), of whom 4 (21.1%) underwent uncomplicated neurosurgical intervention. CONCLUSIONS SCA were present in 22% of ARM patients both in simple, as well as more complex ARM types. TSC was present in 19 patients with SCA, of whom 4 underwent uncomplicated neurosurgical intervention. Therefore, screening for SCA seems to be important for all ARM patients, regardless of ARM type. LEVEL OF EVIDENCE Level III.
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Affiliation(s)
- Cunera M C de Beaufort
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
| | - Julia C Groenveld
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Tara M Mackay
- Amsterdam UMC, Department of Surgery, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - K Mariam Slot
- Amsterdam UMC, Department of Neurosurgery, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Sjoerd A de Beer
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
| | - Justin R de Jong
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
| | - Joost van Schuppen
- Amsterdam UMC, Department of Radiology and Nuclear Medicine, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Carola J McDonald
- Amsterdam UMC, Department of Pediatric Neurology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Dewi P Bakker
- Amsterdam UMC, Department of Pediatric Neurology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Elske van den Berg
- Amsterdam UMC, Department of Pediatric Neurology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Caroline F Kuijper
- Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands
| | - Ramon R Gorter
- Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, Gastroenterology and Hepatology, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
- Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands
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Hassan L, Cortenraad SAM, Rosenberg CBM, Kimman ML, Haanen M, van Gemert WG, Visschers RGJ. Protocol for the development of a core outcome set for the optimisation of treatment and follow-up of patients with an anorectal malformation (ARM): The ARM and OUtcome Review (ARMOUR)-project. BMJ Paediatr Open 2023; 7:10.1136/bmjpo-2022-001691. [PMID: 36914223 PMCID: PMC10016268 DOI: 10.1136/bmjpo-2022-001691] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/02/2022] [Accepted: 02/17/2023] [Indexed: 03/16/2023] Open
Abstract
BACKGROUND Primary treatment of an anorectal malformation (ARM) is surgical restoration of the anatomy. These children can experience many problems later in life; therefore, a long-term follow-up by an experienced team is needed. The aim of the ARM and OUtcome Review (ARMOUR-study) is to identify the lifetime outcomes that are important from a medical and patients' perspective and develop a core outcome set (COS) that can be implemented in a care pathway to support individual ARM management decisions. METHODS First, a systematic review will identify clinical and patient-reported outcomes described in studies conducted in patients with an ARM. Second, qualitative interviews with patients of different age categories and their caregivers will be held to ensure that the COS will include outcomes that are relevant from the patient's perspective. Finally, the outcomes will be taken forward to a Delphi consensus exercise. Using multiple web-based Delphi rounds, key stakeholders (medical experts, clinical researchers and patients) will prioritise outcomes. During a face-to-face consensus meeting, the final COS will be determined. These outcomes can be evaluated in a life-long care pathway for patients with ARM. DISCUSSION The development of a COS for ARMs aims to reduce heterogeneity in outcome reporting between (clinical) studies, enhancing the availability of comparable data, which will facilitate evidence-based patient care. Assessment of the outcomes in the COS during individual care pathways for ARM can support shared decisions regarding management. The ARMOUR-project has ethical approval and is registered with the Core Outcome Measures in Effectiveness Trials (COMET) initiative. LEVEL OF EVIDENCE Treatment study level II.
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Affiliation(s)
- Layla Hassan
- Department of Pediatric Surgery, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
| | - Shauna A M Cortenraad
- Department of Pediatric Surgery, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
| | - Charlotte B M Rosenberg
- Department of Pediatric Surgery, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
| | - Merel L Kimman
- Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
| | - Michel Haanen
- Representative Patient Societies/ VA The Netherlands and SoMA e.V. Germany, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
| | - Wim G van Gemert
- Department of Pediatric Surgery, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands
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20
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Getting to the Bottom of It: Reducing the Burden of Congenital Anorectal Malformation Diagnostic Testing. Am J Gastroenterol 2023; 118:463-464. [PMID: 36799897 DOI: 10.14309/ajg.0000000000002158] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/06/2022] [Accepted: 12/20/2022] [Indexed: 02/18/2023]
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21
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Ganesan N, Gurusamy U, Venkataswamy C, Sankar K. A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-Diagnostic Utility of Perinatal Autopsy. Indian J Pediatr 2023; 90:139-145. [PMID: 35980547 DOI: 10.1007/s12098-022-04305-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/20/2022] [Accepted: 06/07/2022] [Indexed: 01/19/2023]
Abstract
OBJECTIVE To describe the spectrum of congenital renal anomalies and emphasize the critical role of comprehensive autopsy examination in identifying CAKUT, especially of lower urinary tract malformations correlating with prenatal imaging methods. METHODS Retrospective analyses of CAKUT diagnosed at fetal autopsy were analyzed over a 7-y period and correlated with prenatal imaging findings. RESULT Among the 255 fetal autopsies, 45 cases were detected with CAKUT. Isolated (27%), syndromic CAKUT (51%), and CAKUT associated with other system anomalies (22%) were found. Hydronephrosis, followed by cystic renal diseases and agenesis were the common renal malformations. The gastrointestinal tract (GIT) was the commonest system associated with CAKUT. Among the syndromic CAKUT, the urorectal septum malformation (URSM) was the most frequent one, followed by VACTER-L, acrorenal syndrome, and OEIS complex. When correlating prenatal USG and autopsy findings, a significant change in final diagnosis was observed in 60% of cases. CONCLUSION Extrarenal malformations and syndromic associations of CAKUT predominated over isolated ones. Detection of lower urinary tract anomalies in CAKUT is difficult through antenatal imaging methods if associated with oligohydramnios. In these circumstances, the perinatal autopsy has a significant role in arriving at the final diagnosis which guides the clinician in predicting the recurrence risk and the need for genetic workup.
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Affiliation(s)
- Nidhya Ganesan
- Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India
| | - Umamaheswari Gurusamy
- Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India.
| | - Chaitra Venkataswamy
- Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India
| | - Kavya Sankar
- Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India
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22
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Huang H, Liu X, Li Z, Lin J, Yang H, Xu Z. Ectopic scrotum and penoscrotal transposition: Case report and literature review. Front Pediatr 2023; 11:1015384. [PMID: 36896407 PMCID: PMC9989158 DOI: 10.3389/fped.2023.1015384] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/09/2022] [Accepted: 02/01/2023] [Indexed: 02/23/2023] Open
Abstract
Background Ectopic scrotum (ES) is an extremely rare congenital scrotal malformation. Ectopic scrotum with VATER/VACTERL [vertebral defects (V), anal atresia or anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), cardiac defects, renal malformations (R), and limb defects (L)] association is even rarer. There are no uniform guidelines for diagnosis and treatment. Clinical case We described a 2-year-5-month-old boy who has ectopic scrotum and penoscrotal transposition and reviewed relevant literature in this report. We performed laparoscopy exploration, rotation flap scrotoplasty, and orchiopexy and achieved a great result during the postoperative follow-up. Conclusions Combined with the previous literature, we made a summary to come up with a plan for the diagnosis and treatment of ectopic scrotum. Rotation flap scrotoplasty and orchiopexy are worthy of considering operative methods in treating ES. For penoscrotal transposition or VATER/VACTERL association, we can treat the diseases individually.
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Affiliation(s)
- Haoran Huang
- Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Xiangxia Liu
- Department of Plastic Surgery, University of Tennessee Health Science Center, Memphis, TN, United States
| | - Zuoqing Li
- Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Junjie Lin
- Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Hai Yang
- Department of Pediatric Surgery, Meizhou People's Hospital, Meizhou, China
| | - Zhe Xu
- Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
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23
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Alamo L, Gengler C, Hanquinet S, Rougemont AL, Meuwly JY. Prenatal magnetic resonance imaging of complex female genitourinary system abnormalities, what the fetal medicine specialist needs to know. Prenat Diagn 2023; 43:84-94. [PMID: 36367171 DOI: 10.1002/pd.6264] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2021] [Revised: 10/27/2022] [Accepted: 11/05/2022] [Indexed: 11/13/2022]
Abstract
Complex female genitourinary system anomalies include a wide spectrum of uncommon pathologies, caused from the abnormal separation of the urorectal septum and the urogenital sinus in early embryonic life. The resulting fusion of the distal urinary, genital and intestinal tracts increases the risk of death in utero and alters the normal organ functionality and the quality of life in survivors. An accurate prenatal identification of these pathologies depends mainly on prior suspicion at ultrasound screening, but also requires a solid knowledge of embryology and familiarity with the different patterns of malformation. Prenatal MRI provides an excellent anatomic evaluation of the fetal anatomy that may improve the diagnosis in complex cases with inconclusive echographic findings. The additional information can help both families and medical teams to better evaluate the severity of the pathology and the postnatal prognosis and therefore to better orientate the management during pregnancy, at delivery and after birth. This review article describes the embryological basis and the clinical findings of the most relevant pathologies included in the spectrum. It also describes the imaging signs on prenatal MRI studies in a series of confirmed cases and proposes a diagnostic algorithm based on imaging findings for guiding prenatal diagnosis.
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Affiliation(s)
- Leonor Alamo
- Department of Radiology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland
| | - Carole Gengler
- Department of Pathology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland
| | - Sylviane Hanquinet
- Department of Radiology, University Hospital of Genève (HUG), Genève, Switzerland
| | - Anne-Laure Rougemont
- Department of Pathology, University Hospital of Genève (HUG), Genève, Switzerland
| | - Jean-Yves Meuwly
- Department of Radiology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland
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24
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Miyake Y, Lane GJ, Yamataka A. Embryology and anatomy of anorectal malformations. Semin Pediatr Surg 2022; 31:151226. [PMID: 36417783 DOI: 10.1016/j.sempedsurg.2022.151226] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Abstract
The etiology of anorectal malformations (ARM) is complicated because of the spectrum of anomalies seen clinically, many of which are isolated and seemingly unique. Recent studies suggest that ARMs result from abnormal cloacal membrane (CM) development that contributes to disrupt normal local muscle and nerve development. If CM maldevelopment is severe, the rectal pouch lies above the pelvic floor, resulting in asymmetric and/or deviated musculature, so a midline incision is likely to cause trauma or be detrimental. Autonomic nerve plexuses can be associated with a fistula tract in ARMs and are also at risk for damage during surgery and contribute to genitourinary complications. Understanding the anatomy and development of the perineum is crucial for treating the broad spectrum of anomalies associated with ARMs and may assist in predicting/managing other related morbidity.
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Affiliation(s)
- Yuichiro Miyake
- Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan, Address: 2-1-1 Hongo Bunkyo-ku, Tokyo 113-8421, Japan
| | - Geoffrey J Lane
- Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan, Address: 2-1-1 Hongo Bunkyo-ku, Tokyo 113-8421, Japan
| | - Atsuyuki Yamataka
- Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan, Address: 2-1-1 Hongo Bunkyo-ku, Tokyo 113-8421, Japan.
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25
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Bzdega K, Karolak JA. Phenotypic spectrum of FGF10-related disorders: a systematic review. PeerJ 2022; 10:e14003. [PMID: 36124135 PMCID: PMC9482362 DOI: 10.7717/peerj.14003] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2022] [Accepted: 08/13/2022] [Indexed: 01/19/2023] Open
Abstract
FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of FGF10 has been emphasized by the identification of FGF10 abnormalities in human congenital disorders affecting different organs and systems. Single-nucleotide variants in FGF10 or FGF10-involving copy-number variant deletions have been reported in families with lacrimo-auriculo-dento-digital syndrome, aplasia of the lacrimal and salivary glands, or lethal lung developmental disorders. Abnormalities involving FGF10 have also been implicated in cleft lip and palate, myopia, or congenital heart disease. However, the exact developmental role of FGF10 and large phenotypic heterogeneity associated with FGF10 disruption remain incompletely understood. Here, we review human and animal studies and summarize the data on FGF10 mechanism of action, expression, multi-organ function, as well as its variants and their usefulness for clinicians and researchers.
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26
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Ford K, Peppa M, Zylbersztejn A, Curry JI, Gilbert R. Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study. Arch Dis Child 2022; 107:758-766. [PMID: 35318197 DOI: 10.1136/archdischild-2021-323474] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/02/2021] [Accepted: 02/17/2022] [Indexed: 11/03/2022]
Abstract
OBJECTIVE To determine the birth prevalence, maternal risk factors and 5-year survival for isolated and complex anorectal malformations. DESIGN National birth cohort using hospital admission data and death records. SETTING All National Health Service England hospitals. PATIENTS Live-born singletons delivered from 2002 through 2018, with evidence in the first year of life of a diagnosis of an anorectal malformation and repair during a hospital admission, or anorectal malformation recorded on the death certificate. Cases were further classified as isolated or complex depending on the presence of additional anomalies. MAIN OUTCOME MEASURES Birth prevalence of anorectal malformations per 10 000 live births, risk ratios for isolated and complex anorectal malformation by maternal, infant and birth characteristics, and 5-year survival. RESULTS We identified 3325 infants with anorectal malformations among 9 474 147 live-born singletons; 61.7% (n=2050) of cases were complex. Birth prevalence was 3.5 per 10 000 live births (95% CI 3.4 to 3.6). Complex anorectal malformations were associated with maternal age extremes after accounting for other sociodemographic factors. Compared with maternal ages 25-34 years, the risk of complex anorectal malformations was 31% higher for ≥35 years (95% CI 17 to 48) and 13% higher for ≤24 years (95% CI 0 to 27). Among 2376 anorectal malformation cases (n=1450 complex) born from 2002 through 2014, 5-year survival was lower for complex (86.9%; 95% CI 85.1% to 88.5%) than isolated anorectal malformations (98.2%; 95% CI 97.1% to 98.9%). Preterm infants with complex anorectal malformations had the lowest survival (73.4%; 95% CI 68.1% to 78.0%). CONCLUSIONS Differences in maternal risk factors for isolated and complex anorectal malformations may reflect different underlying mechanisms for occurrence. Five-year survival is high but lowest for preterm children with complex anorectal malformations.
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Affiliation(s)
- Kathryn Ford
- Department of Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK .,Population, Policy and Practice Department, University College London Institute of Child Health, London, UK
| | - Maria Peppa
- Population, Policy and Practice Department, University College London Institute of Child Health, London, UK
| | - Ania Zylbersztejn
- Population, Policy and Practice Department, University College London Institute of Child Health, London, UK
| | - Joe I Curry
- Department of Specialist Neonatal and Paediatric Surgery, Great Ormond Street Hospital for Children, London, UK
| | - Ruth Gilbert
- Population, Policy and Practice Department, University College London Institute of Child Health, London, UK
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27
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Saeed S, Rauf Khalid A, Farhan M, Basit J, Tousif K, Haider T, Us Sabah N, Gondal MF, ur Rehman ME. Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward. Cureus 2022; 14:e23136. [PMID: 35425683 PMCID: PMC9006053 DOI: 10.7759/cureus.23136] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/14/2022] [Indexed: 11/05/2022] Open
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28
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Anorectal malformation and Hirschsprung disease in an otherwise healthy infant. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2022. [DOI: 10.1016/j.epsc.2022.102203] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
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29
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Rollins MD, Bucher BT, Wheeler JC, Horns JJ, Paudel N, Hotaling JM. Healthcare Burden and Cost in Children with Anorectal Malformation During the First 5 Years of Life. J Pediatr 2022; 240:122-128.e2. [PMID: 34487770 DOI: 10.1016/j.jpeds.2021.08.083] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/08/2021] [Revised: 08/27/2021] [Accepted: 08/30/2021] [Indexed: 12/29/2022]
Abstract
OBJECTIVE To identify cumulative 5-year healthcare costs and healthcare days in children with anorectal malformation (ARM) and to compare the cumulative 5-year healthcare costs and healthcare days in children with ARM with 3 control cohorts: healthy, premature, and congenital heart disease (CHD). STUDY DESIGN We performed a retrospective case-control study using the Truven MarketScan database of commercial claims encounters between 2008 and 2017. The ARM, CHD, and premature cohorts were identified using a targeted list of International Classification of Diseases 9th or 10th Revision diagnosis and Current Procedural Terminology codes. The healthy cohort included patients without ARM, preterm birth, or CHD. RESULTS We identified 664 children with ARM, 3356 children with heart disease, 63 190 children who were born preterm, and 2947 healthy patients. At 5 years, the total healthcare costs of children with ARM ($273K, 95% CI $168K-$378K) were similar to the premature cohort ($246K, 95% CI $237K-$255K) and lower than the CHD cohort ($466K, 95% CI $401K-$530K, P < .001). Total healthcare days were similar in children with ARM (158 days, 95% CI 117-198) and prematurity (141 days, 95% CI 137-144) but lower than CHD (223 days, 95% CI 197-250, P = .02). In ARM, outpatient care (126 days, 95% CI 93-159) represented the largest contribution to total healthcare days. CONCLUSIONS Children with ARM accumulate similar healthcare costs to children with prematurity and comparable healthcare days to children with CHD and prematurity in the first 5 years of life. Outpatient care represents the majority of healthcare days in children with ARM, identifying this as a target for quality improvement and demonstrating the long-term impact of this condition.
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Affiliation(s)
- Michael D Rollins
- Division of Pediatric Surgery, Department of Surgery, University of Utah Health, Salt Lake City, UT.
| | - Brian T Bucher
- Division of Pediatric Surgery, Department of Surgery, University of Utah Health, Salt Lake City, UT
| | - Justin C Wheeler
- Division of Pediatric Gastroenterology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT
| | - Joshua J Horns
- Department of Surgery, University of Utah Health, Salt Lake City, UT
| | - Niraj Paudel
- Department of Surgery, University of Utah Health, Salt Lake City, UT
| | - James M Hotaling
- Division of Urology, Department of Surgery, University of Utah Health, Salt Lake City, UT
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30
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Isolated anorectal atresia diagnosed in the first trimester – case report. GINECOLOGIA.RO 2022. [DOI: 10.26416/gine.38.4.2022.7384] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022] Open
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31
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Esposito G, Totonelli G, Morini F, Contini G, Palma P, Mosiello G, Longo D, Schingo PM, Marras CE, Bagolan P, Iacobelli BD. Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations. J Pediatr Surg 2021; 56:1803-1810. [PMID: 34167803 DOI: 10.1016/j.jpedsurg.2021.05.011] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/02/2020] [Revised: 05/07/2021] [Accepted: 05/11/2021] [Indexed: 10/01/2022]
Abstract
AIM To evaluate the correlation between sacral/vertebral anomalies and spinal cord anomalies (SCA) on MRI, in patients with anorectal malformation (ARM). METHODS Patients with ARM consecutively treated between January 1999 and August 2019 were included. Radiological imaging of sacrum and spine were retrospectively analyzed and correlated to the presence of SCA at MRI. Fisher's exact test and X2 test were used as appropriate; p<0.05 was considered statistically significant. RESULTS 348 patients with ARM were enrolled in the study, 147 presented SCA at MRI. 144 patients showed spinal bone anomalies, isolated vertebral and sacral anomalies were found in 17,6% and 35% respectively. Higher level of ARM was associated with a significant higher prevalence of sacral and vertebral anomalies. A significant correlation was found between the "level" of ARM and the presence of SCA (p<0.05). Sacral anomalies were significantly correlated with the presence of SCA at MRI (p<0.05). SCA were found in 70% of patients with vertebral anomalies (VA) and in 76% of patients with sacral anomalies. The presence of multiple malformations (vertebral and sacral anomalies) are strictly related to the presence of SCA. However, the absence of spinal bone anomalies does not exclude the presence of SCA. SD was the most represented type of SCA (n=94/147), of those 96% had fatty filum. Neurological or neurourological symptoms were detected in 11,5% patients (n=17) with SCA and required neurosurgical intervention. CONCLUSIONS Our data confirm the strong relation between sacral or vertebral anomalies and SCA. However, in our series also patients without sacral/vertebral anomalies had SCA at MRI. Our results suggest that, despite the presence or absence of spinal anomalies, spinal cord MRI should be performed in all children with ARM, to allow a correct multidisciplinary follow-up and treatment. In fact, most patients with spinal bone and SCA are asymptomatic, but could develop clinical manifestations during their growth.
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Affiliation(s)
- Giacomo Esposito
- Department of Neuroscience, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Giorgia Totonelli
- Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Francesco Morini
- Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Giorgia Contini
- Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Paolo Palma
- Department of Neuroscience, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Giovanni Mosiello
- Department of Surgery, Neuro-Urology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Daniela Longo
- Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | | | - Carlo Efisio Marras
- Department of Neuroscience, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - Pietro Bagolan
- Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of System Medicine, University of Rome "Tor Vergata", Rome, Italy
| | - Barbara Daniela Iacobelli
- Medical and Surgical Department of the Fetus-Newborn-Infant, Newborn Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
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32
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The Role of De Novo Variants in Formation of Human Anorectal Malformations. Genes (Basel) 2021; 12:genes12091298. [PMID: 34573284 PMCID: PMC8466114 DOI: 10.3390/genes12091298] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/31/2021] [Revised: 08/18/2021] [Accepted: 08/19/2021] [Indexed: 11/17/2022] Open
Abstract
Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chromosomal aberrations. The etiology of ARM is heterogeneous, with the individual environmental or genetic risk factors remaining unknown for the majority of cases. The occurrence of familial ARM and previous epidemiologic analysis suggest autosomal dominant inheritance in a substantial subset of ARM patients. The implicated mortality and reduced fecundity in patients with ARM would lead to allele loss. However, mutational de novo events among the affected individuals could compensate for the evolutionary pressure. With the implementation of exome sequencing, array-based molecular karyotyping and family-based rare variant analyses, the technologies are available to identify the respective factors. This review discusses the identification of disease-causing variants among individuals with ARM. It highlights the role of mutational de novo events.
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Jun LH, Jacobsen A, Rai R. Case Report: A Case Series of Rare High-Type Anorectal Malformations With Perineal Fistula: Beware of Urethral Involvement. Front Surg 2021; 8:693587. [PMID: 34336920 PMCID: PMC8320771 DOI: 10.3389/fsurg.2021.693587] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/11/2021] [Accepted: 05/14/2021] [Indexed: 11/13/2022] Open
Abstract
Anorectal malformations (ARMs) are one of the more common congenital anomalies encountered in pediatric surgery where the majority are diagnosed in the early neonatal period. The etiology of ARM remains uncertain and is likely to be multifactorial. A majority of ARMs result from abnormal development of the urorectal septum in early fetal life. There can be a broad range of presentation features varying from low anomalies with perineal fistula to high anomalies mandating intricate management. To develop a standardized system for comparison in follow-up studies, the Krickenbeck classification was introduced according to the type of fistula. According to the Krickenbeck classification of ARM, those with a rectoperineal fistula are classified as low-type ARM and are usually managed with a perineal anoplasty without colostomy. In this case series, we describe two rare cases of distinct high and intermediate ARM with rectoperineal fistulas, which were thought to be low-type ARM but were subsequently found to have urethral involvement. Our cases consisted of high and intermediate ARMs, which were successfully treated with posterior sagittal anorectoplasty as described. These cases exemplified rare variants of ARM where rectoperineal fistulas can be associated with high-type anomalies. Rare-variant ARM with rectopenile or rectoscrotal fistula can be associated with high-type anomalies in contrast to classical rectoperineal fistulas. A high index of suspicion should remain in cases with previous urinary tract infection despite normal imaging. Careful planning is also needed with consideration of possible need for urethral repair during anoplasty, which was needed in both our cases.
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Affiliation(s)
- Lim Hui Jun
- Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore, Singapore
| | - Anette Jacobsen
- Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore, Singapore
| | - Rambha Rai
- Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore, Singapore
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Li SY, Wang CY, Xiao YX, Tang XB, Yuan ZW, Bai YZ. RNA-Seq Profiling of Circular RNAs During Development of Hindgut in Rat Embryos With Ethylenethiourea-Induced Anorectal Malformations. Front Genet 2021; 12:605015. [PMID: 33927745 PMCID: PMC8076906 DOI: 10.3389/fgene.2021.605015] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2020] [Accepted: 03/26/2021] [Indexed: 12/26/2022] Open
Abstract
Anorectal malformations (ARMs) are among the most common congenital terminal digestive tract malformations. Circular RNAs (circRNAs), a novel type of endogenous non-coding RNAs, play roles in the development of the digestive system; however, their contributions to the pathogenesis of ARMs are not well-established. In this study, we explored the mechanism underlying ethylenethiourea (ETU)-induced ARMs by profiling circRNA expression via RNA-seq and constructing a regulatory circRNA-miRNA-mRNA network. Nine pregnant rats were gavage-fed a single dose of 125 mg/kg 1% ETU (ARM group) on gestational day 10 (GD10), and another 9 pregnant rats received a similar dose of saline (normal group) as a control. Embryos were obtained by cesarean section on the key time-points of anorectal development (GD14, GD15, and GD16). Hindgut samples isolated from the fetuses were evaluated by high-throughput sequencing and differentially expressed circRNAs were validated by reverse transcription-quantitative polymerase chain reaction, agarose gel electrophoresis, and Sanger cloning and sequencing. A total of 18295 circRNAs were identified in the normal and ARM groups. Based on the 425 differentially expressed circRNAs (|Fc| > 2, p < 0.05), circRNA-miRNA and miRNA-mRNA pairs were predicted using miREAP, miRanda, and TargetScan. A total of 55 circRNAs (14 up- and 41 downregulated in the ARM group compared to the normal group) were predicted to bind to 195 miRNAs and 947 mRNAs. Competing endogenous RNA networks and a Kyoto Encyclopedia of Genes and Genomes analysis revealed that novel_circ_001042 had the greatest connectivity and was closely related to ARM-associated signaling pathways, such as the Wingless Type MMTV integration site family, mitogen-activated protein kinase, and transforming growth factor-β pathways. These results provide original insight into the roles of circRNAs in ARMs and provide a valuable resource for further analyses of molecular mechanisms and signaling networks.
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Affiliation(s)
- Si Ying Li
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Chen Yi Wang
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Yun Xia Xiao
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Xiao Bing Tang
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
| | - Zheng Wei Yuan
- The Key Laboratory of Health Ministry for Congenital Malformation, Shenyang, China
| | - Yu Zuo Bai
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China
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Bjoersum-Meyer T, Kaalby L, Lund L, Christensen P, Jakobsen MS, Baatrup G, Qvist N, Ellebaek M. Long-term Functional Urinary and Sexual Outcomes in Patients with Anorectal Malformations-A Systematic Review. EUR UROL SUPPL 2021; 25:29-38. [PMID: 34337501 PMCID: PMC8317805 DOI: 10.1016/j.euros.2021.01.007] [Citation(s) in RCA: 22] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/07/2021] [Indexed: 11/01/2022] Open
Abstract
Context Long-term urinary and sexual outcomes after repair of anorectal malformations (ARMs) are currently affected by concomitant malformations of the urinary tract and genitalia, sacral anomalies, and the surgical approach. However, the overall prevalence of urinary and sexual dysfunction remains unclear. Objective To evaluate the prevalence of urinary and sexual dysfunction in patients aged >10 yr after repair of ARM in infancy. Evidence acquisition A systematic literature review was performed using the Medline, Embase, and Cochrane databases. Selected studies were reviewed according to the Consolidated Standards of Reporting Trials (CONSORT) and Standards for the Reporting of Diagnostic Accuracy Studies (STARD) criteria. We included studies reporting the prevalence of the following outcomes: urinary incontinence (UI), lower urinary tract symptoms (LUTS), neurogenic bladder dysfunction (NBD), sexual dysfunction (SD), erectile dysfunction (ED), ejaculatory dysfunction, and birth rate. We initially identified 588 studies, of which 17 were included for evidence synthesis. Evidence synthesis A probabilistic meta-analysis on each subgroup revealed the following combined prevalence estimates: UI 16% (95% confidence interval [CI] 7-27%), LUTS/NBD 36% (95% CI 13-62%), SD among women 50% (95% CI 34-66%), ED 12% (95% CI 7-18%), ejaculatory dysfunction 16% (95% CI 9-25%), and birth rate 20% (95% CI 7-38%). Subgroup analysis showed a higher prevalence of ED and ejaculatory dysfunction among patients with high ARM severity when compared to low ARM severity. Conclusions Among patients undergoing ARM repair, we found a high prevalence of long-term impairment of UI, ED, and SD. We stress the need for larger multicentre trials with more comparable populations to optimise treatment and follow-up regimens. Patient summary We reviewed long-term outcomes for patients with anorectal malformations who underwent surgery and found that both urinary incontinence and sexual dysfunctions are common for both males and females.
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Affiliation(s)
- Thomas Bjoersum-Meyer
- Department of Surgery, Odense University Hospital, Odense, Denmark.,Department of Clinical Research, University of Southern Denmark, Odense, Denmark
| | - Lasse Kaalby
- Department of Surgery, Odense University Hospital, Odense, Denmark.,Department of Clinical Research, University of Southern Denmark, Odense, Denmark
| | - Lars Lund
- Department of Urology, Odense University Hospital, Odense, Denmark
| | | | | | - Gunnar Baatrup
- Department of Surgery, Odense University Hospital, Odense, Denmark.,Department of Clinical Research, University of Southern Denmark, Odense, Denmark
| | - Niels Qvist
- Department of Surgery, Odense University Hospital, Odense, Denmark.,Department of Clinical Research, University of Southern Denmark, Odense, Denmark
| | - Mark Ellebaek
- Department of Surgery, Odense University Hospital, Odense, Denmark.,Department of Clinical Research, University of Southern Denmark, Odense, Denmark
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36
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Burchard PR, Ramazani SN, Wakeman DS, Arca MJ, Livingston MH. Hirschsprung disease and imperforate anus without fistula in a 5-year-old boy with Trisomy 21. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2021. [DOI: 10.1016/j.epsc.2020.101726] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022] Open
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Redo posterior sagittal anorectoplasty for lateral mislocation in patients with anorectal malformations. J Pediatr Surg 2020; 55:2521-2526. [PMID: 32595034 DOI: 10.1016/j.jpedsurg.2020.05.029] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/09/2020] [Revised: 05/05/2020] [Accepted: 05/26/2020] [Indexed: 01/31/2023]
Abstract
BACKGROUND Children undergoing repair of an anorectal malformation (ARM) may have persistent soiling and/or constipation postoperatively. An anatomic reason should be sought; one of the causes for these problems that may require reoperation is mislocation of the rectum and anus outside of the muscle complex. METHODS We reviewed our population of children who underwent re-do anorectoplasty surgery between 2014 and 2019. Indications for surgery and outcomes were recorded. RESULTS Twelve patients had a lateral mislocation and underwent reoperation. There were no immediate complications in this subgroup. 9 of 10 patients are clean, and 4 are now able to have voluntary bowel movements. CONCLUSION For patients who are found to have a significant lateral mislocation, we describe a new surgical technique that replaces the rectum and neo-anus directly in the midline through the muscle complex which may improve functional outcome.
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Klapczynski C, Brasseur-Daudruy M, Hardeman S, Braund S, Verspyck E. [How do I diagnose fetal anal malformations during ultrasound screening?]. ACTA ACUST UNITED AC 2020; 49:288-291. [PMID: 33080396 DOI: 10.1016/j.gofs.2020.10.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/06/2020] [Indexed: 11/15/2022]
Affiliation(s)
- C Klapczynski
- Service de gynécologie-obstétrique, CHU de l'hôpital Charles-Nicolle, 1, rue Germont, 76000 Rouen, France.
| | - M Brasseur-Daudruy
- Service de radiologie pédiatrique et fœtale, CHU de Charles-Nicolle, 1, rue Germont, 76000 Rouen, France
| | - S Hardeman
- Service de gynécologie-obstétrique, centre hospitalier intercommunale Elbeuf-Louviers-Val-de-Reuil, rue du Dr Villiers, 76503 Saint-Aubin-lès-Elbeuf, France
| | - S Braund
- Service de gynécologie-obstétrique, CHU de l'hôpital Charles-Nicolle, 1, rue Germont, 76000 Rouen, France
| | - E Verspyck
- Service de gynécologie-obstétrique, CHU de l'hôpital Charles-Nicolle, 1, rue Germont, 76000 Rouen, France
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39
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Kim HM, Cha HH, Kim JI, Seong WJ, Park SH, Kim MJ. The diagnosis of an imperforate anus in female fetuses. Yeungnam Univ J Med 2020; 38:240-244. [PMID: 33022903 PMCID: PMC8225495 DOI: 10.12701/yujm.2020.00507] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2020] [Accepted: 09/04/2020] [Indexed: 11/04/2022] Open
Abstract
Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.
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Affiliation(s)
- Hyun Mi Kim
- Department of Obstetrics and Gynecology, Kyungpook National University Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, Kyungpook National University Chilgok Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Daegu, Korea
| | - Hyun-Hwa Cha
- Department of Obstetrics and Gynecology, Kyungpook National University Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, Kyungpook National University Chilgok Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Daegu, Korea
| | - Jong In Kim
- Department of Obstetrics and Gynecology, Kyungpook National University Chilgok Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Daegu, Korea
| | - Won Joon Seong
- Department of Obstetrics and Gynecology, Kyungpook National University Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, Kyungpook National University Chilgok Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Daegu, Korea
| | - Sook-Hyun Park
- Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea
| | - Mi Ju Kim
- Department of Obstetrics and Gynecology, Kyungpook National University Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, Kyungpook National University Chilgok Hospital, Daegu, Korea.,Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Daegu, Korea
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40
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Midrio P, Trovalusci E, Zanatta C, Cataldo I. Should the search for ganglia in the distal rectal fistula in patients with anorectal malformation be abandoned? J Pediatr Surg 2020; 55:2166-2169. [PMID: 32345500 DOI: 10.1016/j.jpedsurg.2020.03.021] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/08/2019] [Revised: 03/10/2020] [Accepted: 03/12/2020] [Indexed: 10/24/2022]
Abstract
PURPOSE Occurrence of Hirschsprung's disease in anorectal malformation (ARM) patients is rare, but many surgeons still ask to pathologists to search for ganglia in the terminal rectum/fistula; the histological procedure is time and money consuming and the results confounding. A consecutive series of ARM patients, in which the presence of ganglia in terminal rectum was revised, is herein presented. MATERIALS AND METHODS Rectal specimens of ARM patients who underwent corrective surgery in the last 6 years were retrieved. The histological protocol included H&E staining and calretinin immunohistochemistry. Each specimen is processed until all material is examined if no ganglia are retrieved after the first twelve sections. RESULTS Forty cases were examined. Eight patients were younger than 1 month of age at operation. The mean length of the specimen was 1.5cm (range: 1-3 cm). Upon clinical request, ganglia were searched in 15/40 cases (37.5%) and resulted absent in 10/15 (66.5%). All patients have been followed and none developed signs or symptoms suggestive for Hirschsprung. CONCLUSIONS The practice to search for ganglia in the terminal rectum/fistula in ARM patients should be abandoned, as incidence of associated colorectal diseases is rare. Moreover, the procedure is expensive both in terms of laboratory's reagents and working time of expert pathologists and technicians. LEVEL OF EVIDENCE Level IV (Case Series with no Comparison Group).
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Affiliation(s)
- Paola Midrio
- Pediatric Surgery, Ca' Foncello Hospital, Treviso, Italy.
| | | | - Cinzia Zanatta
- Pediatric Surgery, Ca' Foncello Hospital, Treviso, Italy
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41
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Association of Hirschsprung's disease with anorectal malformations: the early alarming signs for diagnosis and comorbidity related to this association. J Pediatr Surg 2020; 55:1981-1983. [PMID: 25783341 DOI: 10.1016/j.jpedsurg.2014.04.007] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/12/2013] [Revised: 03/14/2014] [Accepted: 04/22/2014] [Indexed: 11/21/2022]
Abstract
BACKGROUND AND AIM The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The aim of this study is to highlight the frequency of this rare association and comorbidity that may be related to this association. PATIENTS AND METHODS Eleven cases out of four hundred forty six cases (2.5%) with ARM found to have HD association presented to Assiut University Children Hospital. All cases were diagnosed by complete clinical, radiological assessment and histopathological examination before correction. The evaluating parameters for those patients were the early warning signs for diagnosis, any unnecessary procedures done and any associated morbidity related to misdiagnosis of this association. RESULTS Age at presentation of these eleven cases ranged from 2 days to 10 years. The diagnosis started early during neonatal period only in four cases either by change of bowel caliber or nonfunctioning stoma. In the remaining seven cases the diagnosis was delayed because of unsuspected association. Fecal fistula after closure of stoma and wound dehiscence followed by incisional hernia is evident associated comorbidity. CONCLUSIONS The incidence of HD in ARM population seems to be more common than its incidence in the general pediatric population. Caliber change of the bowel during the first operation or nonfunctioning stoma is early alarming sign for diagnoses of such association and should direct the attention for stomal biopsy.
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42
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Trovalusci E, Rossato M, Gamba P, Midrio P. Testicular function and sexuality in adult patients with anorectal malformation. J Pediatr Surg 2020; 55:1839-1845. [PMID: 32057441 DOI: 10.1016/j.jpedsurg.2019.12.028] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/27/2019] [Revised: 12/02/2019] [Accepted: 12/31/2019] [Indexed: 01/25/2023]
Abstract
PURPOSE To collect data on sexual and fertility issues in adult male patients with history of anorectal malformations (ARM). MATERIALS AND METHODS Thirty adult males born with ARM, cared for at the Pediatric Surgery of Treviso and Padua Hospitals, were enrolled and interviewed about sexual habits and relationships. Testicular ultrasound, evaluation of male sex hormones and semen analysis were performed to assess testicular function and compare data with 15 fertile controls. Presence of erectile dysfunction was evaluated with IIEF-5 questionnaire. RESULTS Cryptorchidism and recurrent orchiepididymitis were reported in 33% and 40% of patients, respectively. Average testicular volume resulted significantly lower than fertile controls (11.1 vs 14.3 mL, p = 0.002) and 53.5% presented testicular hypotrophy (<10 mL). Erectile dysfunction was reported by a single patient and ejaculatory anomalies by 46.5%. Thirteen patients were azoospermic/cryptozoospermic; 6 of them presented a reduced peripheral sensitivity to androgens (ASI > 139). Coital debut resulted delayed at 18 years old (vs 15 years in the control group). Overall 63.5% reported their condition did not affect their sexual sphere. CONCLUSIONS Evaluation of testicular function is recommended in ARM patients to detect and treat possible infertility disorders, to recognize the clinical conditions which could affect the spermatogenesis since childhood, and to guarantee psychological support. LEVEL OF EVIDENCE RATING Prognosis study. Level III (case-control study).
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Affiliation(s)
- Emanuele Trovalusci
- Pediatric Surgery, Ca' Foncello Hospital, Treviso, Italy; Pediatric Surgery, University of Padova, Padova, Italy
| | - Marco Rossato
- Department of Medicine-DIMED, Clinica Medica 3°, University of Padova, Padova, Italy
| | | | - Paola Midrio
- Pediatric Surgery, Ca' Foncello Hospital, Treviso, Italy.
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Liu D, Qu Y, Cao ZN, Jia HM. Rno_circ_0005139 regulates apoptosis by targeting Wnt5a in rat anorectal malformations. World J Gastroenterol 2020; 26:4272-4287. [PMID: 32848333 PMCID: PMC7422537 DOI: 10.3748/wjg.v26.i29.4272] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/07/2020] [Revised: 05/09/2020] [Accepted: 05/26/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND The molecular mechanisms underlying anorectal malformations (ARM) are not fully established. Circular RNAs (circRNAs) are new born non-coding RNAs, and their role in ARM is unclear. We assumed that rno_circ_0005139 influences apoptosis and proliferation by acting as a miR-324-3p sponge, and downregulating Wnt5a in ARM.
AIM To identify the differential expression of circRNAs and mRNAs in a rat ARM model.
METHODS Sixty-six pregnant Wistar rats were randomly divided into two groups: ARM group (2-imidazolidinethione-induced) and control groups. Embryos were harvested by cesarean delivery, and anorectal tissue was taken on embryonic days 16 (E16), 17 (E17), 19 (E19), and 21 (E21). RNA sequencing and gene microarray analysis was used to identify differentially expressed circRNAs and mRNAs in the ARM in a rat model. We selected 6 circRNAs and 3 mRNAs in the Wnt signal pathway from the result of the RNA sequencing and gene microarray analysis, and quantitative reverse transcription polymerase chain reaction was performed to evaluate their tissue expression. According to bioinformatics prediction, rno_circ_0005139 acted as a miR-324-3p sponge to regulate the expression of Wnt5a. We chose rno_circ_0005139 and Wnt5a as the final candidates. We tested the function of rno_circ_0005139 and the binding sites between rno_circ_0005139 and miR-324-3p, miR-324-3p and Wnt5a by luciferase assays. Co-transfection of rno_circ_0005139 and miR-324-3p was to verify their functional consistency.
RESULTS We identified 38 upregulated and 42 downregulated circRNAs on E17 (P < 0.05), and 301 mRNAs were upregulated and 256 downregulated in the ARM on E17 (P < 0.05, fold-change > 2.0). We found that rno_circ_0006880 and rno_circ_0011386 were upregulated, whereas rno_circ_0000436, rno_circ_0005139, rno_circ_0009285, rno_circ_0014367, Wnt5a, Wnt10b, and Wnt2b were downregulated in ARM tissues. According to bioinformatics prediction, rno_circ_0005139 acted as a miR-324-3p sponge to regulate the expression of Wnt5a. We chose rno_circ_0005139 and Wnt5a as the final candidates. Because the role and molecular mechanism of rno_circ_0005139 are poorly understood, its effect on apoptosis and proliferation was investigated by in vitro plasmid transfection. A luciferase experiment showed that rno_circ_0005139 could bind with miR-324-3p, which negatively regulated Wnt5a expression. The expression of miR-324-3p was significantly higher in ARM anorectal tissues than that in control group on E17 and E19; Wnt5a expression showed the opposite trend. In addition, a miR-324-3p inhibitor attenuated the effects of rno_circ_0005139 knockdown on ARM development.
CONCLUSION Rno_circ_0005139 influences cell proliferation and apoptosis by acting as a miR-324-3p sponge, thereby downregulating Wnt5a in ARM. Accordingly, rno_circ_0005139, miR-324-3p, and Wnt5a could be targeted therapeutic factors for ARM.
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Affiliation(s)
- Dan Liu
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
| | - Yuan Qu
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
| | - Zheng-Nong Cao
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
| | - Hui-Min Jia
- Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
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Jehangir S, Adams S, Ong T, Wu C, Goetti R, Fowler A, Sannappa Venkatraman S. Spinal cord anomalies in children with anorectal malformations: Ultrasound is a good screening test. J Pediatr Surg 2020; 55:1286-1291. [PMID: 31708202 DOI: 10.1016/j.jpedsurg.2019.09.077] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/16/2019] [Revised: 09/20/2019] [Accepted: 09/30/2019] [Indexed: 11/30/2022]
Abstract
PURPOSE The purpose of this study is to correlate spinal ultrasound (US) and magnetic resonance imaging (MRI) findings in patients with anorectal malformations (ARMs). METHODS A retrospective analysis of records was performed for children with ARM presenting to two major pediatric hospitals between 2009 and 2017. The primary outcome analyzed was detection of spinal cord anomalies. Spinal US was performed up to 4 months and MRI within the first year of life. The conus medullaris was considered normal if it had a tapering contour and terminated at or above the Lumbar 2-3 disk space. RESULTS One hundred ninety-three patients with ARM presented during the study period with a slight male preponderance (108, 56%). Spinal imaging was performed in 157(82%) - 137(87%) had US, 64(41%) had MRI and 44 (28%) had both. Of the 44 who had both; US was abnormal in 25 children-confirmed by MRI in 20 (80%). US was normal in 17 children- MRI showed a filum cyst in 1 and a lipoma in 2 children and was inconclusive in 2 children (p<0.001). All who required surgery except one child, were reported on spinal US to have a low lying cord, borderline low cord or tethered cord (p<.05). No child who was reported to have a normal spinal US required de-tethering at a later stage. Spinal US had an overall sensitivity of 91% and specificity of 75% compared to MRI for detecting spinal cord anomalies in children with ARM CONCLUSIONS: Spinal US performed in a tertiary pediatric imaging department was a good screening test for spinal cord anomalies in children with ARM. The finding of a low, borderline low or tethered cord on US mandates an MRI to confirm the findings and correlates with the need for operative correction of spinal cord tethering. STUDY TYPE Clinical research paper. LEVEL OF EVIDENCE 2.
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Affiliation(s)
- Susan Jehangir
- Department of Paediatric Surgery, The Children's Hospital at Westmead, Sydney, NSW, Australia
| | - Susan Adams
- Department of Paediatric Surgery, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia
| | - Tracey Ong
- Department of Paediatric Surgery, The Children's Hospital at Westmead, Sydney, NSW, Australia
| | - Camille Wu
- Department of Paediatric Surgery, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia
| | - Robert Goetti
- Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, NSW, Australia
| | - Adam Fowler
- Department of Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia
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45
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Amelot A, Cretolle C, de Saint Denis T, Sarnacki S, Catala M, Zerah M. Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S. Eur J Pediatr 2020; 179:1121-1129. [PMID: 32055959 DOI: 10.1007/s00431-020-03609-4] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/26/2019] [Revised: 01/09/2020] [Accepted: 02/06/2020] [Indexed: 10/25/2022]
Abstract
Anorectal malformation (ARM) is the most common symptom in VACTERL syndrome (vertebral, anal, cardiac, tracheo-esophageal fistula, renal, and limb anomalies). The association of ARM and spinal dysraphisms (DYS) is well documented. We aim to better evaluate children with VACTERL association and ARM, considering the presence or not of DYS. Between 2000 and 2015, 279 children with VACTERL associations were identified in Necker Children's Hospital, Paris. We identified 61 VACTERL children (22%) with ARM. A total of 52 VACTERL children with ARM were included. DYS were identified in 36/52 of cases (69.2%). A total of 33 (63.5%) VACTERL children presented with sphincterial dysfunction. We constated that 28/33 (84.8%) of them had DYS + (p < 0.0001). More children in ARM (DYS +) subgroup are presenting with initial urinary sphincter dysfunction (58 vs 19%, p < 0.009) than ARM (DYS -). We identified 29 lipoma filum in our series, which were not statistically associated with urinary disorders (p = 0.143).Conclusion: We propose to refine the definition of VACTERL association, by adding S as Spinal defect to include it as an integral part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.What is Known:• The VACTERL association: congenital anomalies of the bony vertebral column (V), anorectal malformation (A), congenital cardiopathy (C), tracheo-esophageal defects (TE), renal and urinary tract anomalies (R), and limb malformations (L).• VACTERL children needs a complete appraisal, as early as possible, to adopt the most appropriate therapeutic management.What is New:• Include spine dysraphism (DYS) as a part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.• The significant correlation between VACTERL/DYS and urinary dysfunction requires to investigate the spine cord prenatally.
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Affiliation(s)
- Aymeric Amelot
- Department of Pediatric Neurosurgery, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.
| | - Célia Cretolle
- Department of Visceral Pediatric surgery, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.,Reference center for AnoRectal and rare Pelvic anomalies MAREP, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France
| | - Timothée de Saint Denis
- Department of Pediatric Neurosurgery, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France
| | - Sabine Sarnacki
- Department of Visceral Pediatric surgery, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.,Reference center for AnoRectal and rare Pelvic anomalies MAREP, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France
| | - Martin Catala
- cUMR7622 UPMC et CNRS, Paris cedex 05, France; dFédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris Cedex 13, France
| | - Michel Zerah
- Department of Pediatric Neurosurgery, Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.,Reference center for Chiari and Malformations of the Spine and the Spinal Cord C-MAVEM and Institute for Genetic Diseases IMAGINE , Necker-EM Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France
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Urinary Tract Anomalies in Patients With Anorectal Malformations: The Role of Screening and Clinical Follow-Up. Urology 2020; 143:216-220. [PMID: 32525076 DOI: 10.1016/j.urology.2020.05.052] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/11/2020] [Revised: 05/14/2020] [Accepted: 05/25/2020] [Indexed: 11/20/2022]
Abstract
OBJECTIVE To evaluate the efficacy of the screening protocol and the clinical follow-up to detect urological anomalies (UA) in patients with ARM (ARM-P) in our institution. Secondary aim was to define the prevalence of UA and their relationship with severity of ARM. METHODS ARM-P were selected from a prospectively maintained database from 2000 to 2016. Exclusion criteria were: incomplete or with less than 3 years of follow-up and absence of surgical correction of the anorectal anomalies. Data from urological screening and follow-up were collected. Patients were divided into complex malformations (Group 1) and less complex malformations (Group 2). RESULTS One hundred seventeen of 149 were included in the study period (62 group 1, 55 group 2). UA were detected in 36/117 at birth (30.7%) with a difference between groups (P = .0005). VUR was detected in 16 (6 with hydronephrosis, 10 with normal ultrasound at birth). A bladder ultrasound after potty training showed 18 lower urinary tract dysfunction (LUTD; 15 with UA detected at birth, 3 with normal ultrasound). 8 LUTD were found during clinical follow-up, confirmed by ultrasound. Spinal MRI detected spinal cord anomalies (SCA) in 52/117 (44.4%). Considering the subgroups with neurogenic bladder and SCA there was a difference between groups (13/33 vs 1/19). CONCLUSION This study suggests that ARM-P are at increased risk of UA, most of which were detected on neonatal ultrasound. While screening protocol can show 88% of UA, follow-up can detect 12.9 % of total abnormalities without difference between groups. This data has to be considered when planning follow-up for these patients.
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Oh C, Youn JK, Han JW, Yang HB, Kim HY, Jung SE. Analysis of Associated Anomalies in Anorectal Malformation: Major and Minor Anomalies. J Korean Med Sci 2020; 35:e98. [PMID: 32281315 PMCID: PMC7152527 DOI: 10.3346/jkms.2020.35.e98] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/02/2019] [Accepted: 02/07/2020] [Indexed: 11/20/2022] Open
Abstract
BACKGROUND Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system. METHODS From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group. RESULTS Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83). CONCLUSION A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.
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Affiliation(s)
- Chaeyoun Oh
- Division of Pediatric Surgery, Department of Surgery, Korea University College of Medicine, Seoul, Korea
| | - Joong Kee Youn
- Department of Pediatric Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Ji Won Han
- Department of Pediatric Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Hee Beom Yang
- Department of Pediatric Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Hyun Young Kim
- Department of Pediatric Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
| | - Sung Eun Jung
- Department of Pediatric Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea
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Is the perianal fistula a variation of anal duplication? Case reports and review. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2020. [DOI: 10.1016/j.epsc.2019.101344] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022] Open
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Abstract
BACKGROUND/PURPOSE Hirschsprung's disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association. METHODS A systematic literature search for relevant articles was performed in four databases using a combination of the following terms "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" and "congenital megacolon and anorectal malformation" for studies published between 1952 and 2019. Reference lists were screened for additional cases. RESULTS Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister-Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case. CONCLUSION Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
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Prenatal imaging of anorectal malformations - 10-year experience at a tertiary center in Switzerland. Pediatr Radiol 2020; 50:57-67. [PMID: 31482265 DOI: 10.1007/s00247-019-04513-2] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/06/2019] [Revised: 06/25/2019] [Accepted: 08/20/2019] [Indexed: 10/26/2022]
Abstract
BACKGROUND Anorectal malformation is a spectrum of congenital defects of the distal bowel, mostly diagnosed at birth. OBJECTIVE To describe the prenatal imaging findings of anorectal malformations, explore the causes of the low rates of prenatal diagnosis, compare the accuracy of prenatal ultrasound (US) and magnetic resonnance imaging [MRI] and evaluate the relevance of information obtained at MRI. MATERIALS AND METHODS Children treated for anorectal malformation at our hospital and with available prenatal studies were retrospectively identified and included in the study. We reviewed prenatal imaging exams, listed findings suggestive of the diagnosis, and compared results with the final classification. RESULTS Fourteen fetuses and neonates - eight with intermediate-high type anorectal malformation and six with cloacae - fulfilled the inclusion criteria. All had associated congenital anomalies. Prenatal exams included 13 US and 8 MRI exams, with 7 children having both exams. Suggestive findings for anorectal malformation were detected in 50% of the cases prenatally and in 85% upon review. They were prospectively detected in 31% and 50% of the cases at US and MRI and retrospectively in 62% and 100% at US and MRI, respectively. MRI was superior to US because it improved the diagnosis, especially in cloacae, and provided relevant additional information that changed management in two cases. CONCLUSION The most important signs suggesting anorectal malformation are an absent target sign and anomalous distal bowel wall and rectal fluid. Complementary prenatal MRI improves the diagnosis of anorectal malformation.
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