Complex Anorectal Malformations Research Articles

T2-based magnetic resonance genitography in children with complex anorectal malformations: experience at a tertiary pediatric hospital in Latin America.

In children with anorectal malformations (ARMs), it is essential to have a diagnostic imaging method that helps with the evaluation of the internal anatomy. In patients with a persistent cloaca, an ARM variant, in which the measurement of the urethral channel and common channel determines surgical management, there are multiple options for imaging. Magnetic resonance imaging (MRI) is an excellent method for this purpose, from which accurate measurements of channel length can be obtained. Additionally, the use of volumetric/isotropic sequences allows multiplanar reformatting. We present our experience with pelvic MRI and intracavitary non-paramagnetic contrast (MR genitography). This method uses volumetric T2-weighted images and the instillation of saline solution as a contrast agent to distinguish the common channel, length of the urethra, anatomy of the vagina, and presence and location of the rectal fistula. We believe this technique to be particularly useful for those working in settings with limited MRI resources.

56. Obstetrical Outcomes in Women with Complex Anorectal Malformations: A Case Series

56. Obstetrical Outcomes in Women with Complex Anorectal Malformations: A Case Series

Significance of searching for ganglia in the terminal rectum/fistula of complex anorectal malformations: Related to defecation function.

The need to search for ganglia in the terminal rectum/fistula of complex anorectal malformations (ARMs) remains controversial. This study aims to evaluate the relationship between ganglia absence in the terminal rectum/fistula and defecation function after anoplasty. A retrospective review of patients who received anoplasty for treating male imperforate anus with rectobulbar (RB)/rectoprostatic (RP) fistulas at a tertiary pediatric hospital was conducted with registered demographic data, imaging study results, and information on the terminal rectum/fistula specimen (excision extension and pathological findings). According to the pathological findings, patients were divided into Groups 1 (ganglia absence) and 2 (ganglia presence). Furthermore, the postoperative defecation function was evaluated using various rating scale questionnaires. Statistical analysis was performed using SPSS 22.0. Of the 62 patients, 18 (29.0%) showed ganglia absence in the terminal rectum/fistula. By analyzing the imaging data, spinal anomalies and spinal cord anomalies were found in 30.6% (19/62) and 56.5% (35/62) of patients, respectively. Baseline information was comparable between Groups 1 and 2 (P > 0.05). For defecation function, there were no significant differences in Kelly scores between the two groups (4.0 ± 0.8 vs. 4.4 ± 1.1, P = 0.177), while Krickenbeck (3.7 ± 1.8 vs. 5.2 ± 1.4) and Rintala (13.7 ± 3.6 vs. 16.0 ± 2.7) scores in Group 1 were significantly lower than those in Group 2 (both P < 0.05). The overall incidence of constipation was 50% (31/62), being higher for Group 1 than Group 2 (77.5% vs. 38.6%, P = 0.002). The area under the curve of ganglia absence for predicting constipation was 0.696, with 77.8% sensitivity and 61.4% specificity. Ganglia absence in the terminal rectum/fistula of male imperforate anus with RB/RP fistulas is associated with constipation after anoplasty, but it has limited predictive value for postoperative constipation. It is necessary to search for ganglia in the terminal rectum/fistula, both intraoperatively and postoperatively.

Cloacal Malformation with Associated Urethral Atresia

Introduction Cloacal malformations comprise a heterogeneous group of anomalies that are considered the most complex anorectal malformations (ARMs) in females. Precise evaluation to identify the unique anatomy prior to reconstruction with collaboration between colorectal surgeons, urologists, and gynecologists is vital. Here, we present a rare anatomical variation in a patient with a cloacal malformation which affected operative and postoperative management. Case description A 6-year-old female with cloaca who underwent colostomy, vaginostomy, and vesicostomy as a newborn presented for reconstruction. Her VACTERL workup was negative except for an atretic right kidney. Her ARM index included the cloaca, a normal spine, and sacrum with a lateral sacral ratio of 0.7, predicting good potential for bowel continence. Cystoscopy through the vesicostomy showed a small bladder with normal ureteral orifices, and a closed bladder neck, with no identifiable urethra. A cloacagram showed an atretic common channel, a single small vagina, and a rectum below the pubococcygeal line. The patient underwent a posterior sagittal anorectovaginourethroplasty, vaginal patch using rectum, rectoplasty, and perineal body reconstruction. The urethra was not amenable to reconstruction, so the vesicostomy was preserved and a future Mitrofanoff was planned. Conclusion Urethral atresia is a rare and challenging finding in cloaca patients, and a vesicostomy is needed to drain urine in the newborn period. Preoperative examination under anesthesia, cystoscopy, vaginoscopy, and cloacagram are crucial to identify the precise anatomy and to plan accordingly.

Surgical evaluation of patients presenting with congenital pouch colon: A comprehensive study

Background: Congenital pouch colon (CPC) is a rare, complex anorectal malformation often associated with various anomalies. Timely diagnosis and recognition of anatomical variations are crucial for effective management. Late referrals and complications result from limited awareness of this condition. Aims and Objectives: The present study was planned with the objective to evaluate the patients presenting with CPC in terms of – initial presentation; associated anomalies; surgical management – single/staged surgery; and outcomes in terms of complications and continence. Materials and Methods: A study on 54 patients diagnosed with CPC found that most undergo staged surgical management, starting with a pouch ostomy followed by a definitive surgery like abdomino-PSARP or abdominoperineal pull through. Window colostomy is preferred due to its ease and less anesthesia exposure. Follow-ups are conducted 3 weeks after surgery, with regular washouts and uroprophylaxis. Patients with adequate weight, good general condition, and no signs of sepsis underwent definitive surgery, including laparotomy, fistula ligation with pouch excision, and normal bowel pull through. The second stage of surgery was performed after achieving adequate weight gain and good pouch volume. Follow-ups are conducted 3–4-week postsurgery, and patients undergo stoma closure 6–8 weeks after surgery. Results: Presentation typically occurred on the 2nd day of life in male patients (56.66%), while females predominantly presented in the neonatal period (75%). Abdominal distention was the most common presentation (83.33%). Due to delayed presentation with features of sepsis, most patients underwent staged surgeries, with 85.18% receiving a diversion procedure, mainly window colostomy. Definitive surgery was typically planned after the age of 10–12 months, based on weight, general condition, and pouch volume. Colporrhaphy was performed to achieve an adequate length of colon, with 55.55% of patients undergoing colporrhaphy with abdominalperineal (AP) pull-through and 33.33% undergoing posterior sagittal anorectoplasty with colporrhaphy and AP pullthrough. The most common complications included pouch ostomy stenosis (11.11%) and perineal excoriation (9.25%), both showing improvement over time. Continence was evaluated using Kelly’s score, revealing good continence in 35.3% of patients and fair continence with occasional soiling in 64.7% of patients. Conclusion: CPC is a challenging condition requiring multidisciplinary care and staged surgeries. Early diagnosis is vital to prevent complications. The prognosis varies by CPC type, with Types III and IV CPC showing better long-term outcomes due to a normal colon with better absorption capacity. Proper surgical approaches can lead to fair continence, and long-term follow-up is necessary to address complications and fertility concerns in female patients with genital abnormalities.

Stricture rate in patients after the repair of anorectal malformation following a standardized dilation protocol.

The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1). A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed. Data collected included patients' demographics, type of ARM, age at the time of operation, postoperative complications, with emphasis on whether there were any strictures or any difficulties during dilations, and on follow-up. During the surgical repair, emphasis was placed on preserving the blood supply of the bowel and performing a tension-free bowel-to-skin anastomosis. Eighty-four patients met the inclusion criteria. Forty-four patients were females: 21 recto-perineal fistula, 12 cloaca, 9 recto-vestibular fistula, one imperforate anus without fistula, and one patient had a complex anorectal and vaginal malformation with an anal stricture and a rectovaginal fistula. Forty patients were males: 14 recto-perineal fistula, 11 recto-urethral bulbar fistula, 6 recto-urethral prostatic fistula, 6 imperforate anus without fistula, and 2 bladder neck fistula. One patient had an anal stenosis with sacral agenesis, without a presacral mass. Patient ages ranged from 0 to 79months (mean 7.5months, median 5months) at the time of surgery. Follow-up time ranged from 7 to 73months (mean 38months, median 35months). No patient suffered of a postoperative anal stricture. Six patients suffered of a rectal prolapse that required a surgical repair. Post-operative anal stricture after PSARP and PSARVUP can be avoided with proper surgical technique and postoperative care. Namely, by preserving adequate blood supply of the bowel and avoiding tension at the anoplasty, and by adhering to a structured protocol of anal dilations.

Renal outcome in patients with complex anorectal malformations

Introduction: Anorectal malformations (ARMs) are one of the most frequent congenital malformations in pediatric surgery. Its estimated incidence ranges between 1 in 2000 and 1 in 5000 live newborns approximately. The aim of the work is to present the associated urinary anomalies and functional renal outcomes in patients with worse prognosis anorectal malformations treated in our department Material and methods: A retrospective review of the patients operated at our center with complex anorectal malformations was performed, including urological abnormalities and long-term renal follow-up. Collected data included the type of urinary abnormality, classified as high or low, renal function (glomerular filtration rate and blood creatinine level), the presence of chronic kidney failure (CKD), the need for surgery to correct the urinary abnormality, the need for kidney transplantation and complications and long-term results. Results: A total of 55 patients were included, 32 girls and 23 boys. Mean age at the time of corrective surgery for the anorectal malformation was 9 months (SD 2.18). The mean follow-up of the patients was 13 years (SD 7.01). Sixty-nine per cent of the patients presented some urological anomaly, being more frequent in the cloacal group. Renal structural abnormalities were found in 22 (40%) of 55 patients. They were identified in 11 (47%) cloacal patients, being the most frequent renal dysplasia (n=7; 32%), followed by position abnormalities in 3. Regarding the lower urinary tract anomalies, it was described in 32 (58%) patients. In the cloacal group, the incidence was 65%, being the most frequent vesicoureteral reflux (n = 14, 60%) as well as in the group of patients with a fistula to the prostatic urethra and in the group with exstrophies of the cloaca (n = 3, 42%). Regarding the rest of the lower urinary tract anomalies, the general incidence of anatomic bladder anomalies (bladder diverticulum, patent urachus) was 15%. As a pathology related to the upper urinary tract: primary obstructive megaureter 5%, ureterocele 1% and posterior urethral valves 1%. Conclusions: Patients with complex anorectal malformations have a significant risk for renal impairment. Adequate screening, high level of suspicion, treatment and long term follow up of any associated urinary anomaly in patients with complex anorectal malformations is essential to preserve renal function and prevent CKD. Care by a multidisciplinary team and adequate transition to adulthood is essential to optimize the medical management of patients and long-term outcomes.

Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study

ObjectiveTo determine the birth prevalence, maternal risk factors and 5-year survival for isolated and complex anorectal malformations.DesignNational birth cohort using hospital admission data and death records.SettingAll National Health Service England...

Posterior cloaca: A rare subtype of a complex anorectal malformation.

Congenital AnomaliesVolume 61, Issue 6 p. 234-235 NOTE Posterior cloaca: A rare subtype of a complex anorectal malformation Ahmed Eshiba, Ahmed Eshiba Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorSamar Eshiba, Samar Eshiba Department Radiology, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorMostafa Kotb, Corresponding Author Mostafa Kotb mostafa.rashad@alexmed.edu.eg orcid.org/0000-0002-2558-3551 Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt Correspondence Mostafa Kotb, Pediatric Surgery Department, Alexandria Faculty of Medicine, 43, Champlion st, Alexandria 21615, Egypt. Email: mostafa.rashad@alexmed.edu.egSearch for more papers by this authorAhmed Khairi, Ahmed Khairi Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorHebatallah Hassan, Hebatallah Hassan Department Radiology, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this author Ahmed Eshiba, Ahmed Eshiba Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorSamar Eshiba, Samar Eshiba Department Radiology, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorMostafa Kotb, Corresponding Author Mostafa Kotb mostafa.rashad@alexmed.edu.eg orcid.org/0000-0002-2558-3551 Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, Egypt Correspondence Mostafa Kotb, Pediatric Surgery Department, Alexandria Faculty of Medicine, 43, Champlion st, Alexandria 21615, Egypt. Email: mostafa.rashad@alexmed.edu.egSearch for more papers by this authorAhmed Khairi, Ahmed Khairi Department of Pediatric Surgery, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this authorHebatallah Hassan, Hebatallah Hassan Department Radiology, Alexandria Faculty of Medicine, Alexandria, EgyptSearch for more papers by this author First published: 17 July 2021 https://doi.org/10.1111/cga.12440Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume61, Issue6November 2021Pages 234-235 RelatedInformation

Cysto-Vaginoscopy of a 3D-Printed Cloaca Model: A Step toward Personalized Noninvasive Preoperative Assessment in Patients with Complex Anorectal Malformations.

For the classification of the complexity of cloacal malformations and the decision on the operative approach, an exact anatomical assessment is mandatory. To benefit from using three-dimensional (3D)-printed models in preoperative planning and training, the practicability of these models should be guaranteed. The aim of this study was to evaluate the quality and feasibility of a real-size 3D-printed cloaca model for the purpose of cysto-vaginoscopic evaluation. We performed a 3D reconstruction and printed a real-size, rubber-like 3D model of an infant pelvis with a cloacal malformation and asked invited pediatric surgeons and pediatric urologists to perform a cysto-vaginoscopy on the model and to complete a brief questionnaire to rate the quality and feasibility of the model and to indicate whether they would recommend the model for preoperative planning and training. Overall, 41 participants rated the model quality as good to very good (M = 3.28, standard deviation [SD] = 0.50, on a scale from 1 to 4). The model was rated as feasible for preoperative training (M = 4.10, SD = 0.75, on a scale from 1 to 5) and most participants (85.4%) would recommend the model for preoperative training. The cysto-vaginoscopy of the model was considered as a valid training tool for real-life cases and improved the confidence on the anatomy of a cloaca. The results of our study indicate that patient-specific 3D-printed models might be a useful tool in the preoperative evaluation of complex anorectal malformations by simulation of cysto-vaginoscopy with an excellent view on anatomical structures to assess the whole spectrum of the individual cloacal malformation. Our model might be a valuable add-on tool for specialty training in pediatric colorectal surgery.

Anatomic factors predict urinary continence in patient with anorectal malformation

It has been described that patients with more complex anorectal malformations (ARM), lower sacral ratios and spinal anomalies have poorer rates of fecal and urinary continence. While the ARM subtype has been shown to be an independent predictor of fecal continence, it is not well understood how each of these anatomic factors impact urinary continence. The purpose of this study was to identify anatomic factors associated with urinary continence in children born with ARM. We performed a retrospective review of a large prospectively collected database of children with ARM. Inclusion criteria included diagnosis of ARM, age >4 years, available lateral sacral ratio measurement and presence of spinal MRI. Any child with incomplete or absent continence data was excluded. Continence was defined as voiding per urethra volitionally, dry between voids and ≤1 urinary accident per week. Bivariable tests of association and log-binomial regression models were used to examine association between anatomic factors and urinary continence. A total of 434 patients were included in the study. 57.8% (n=251) were male. Median age was 8.4 years (IQR 6.0-12.3). With regards to severity of ARM, 20.3% (n=88) were complex, 23.3% (n=101) were moderate and 56.5% (n=245) were simple. Lateral sacral ratio included 11.1% (n=48) that were <0.4, 36.2% (n=157) 0.4-0.7 and 52.8% (n=229)>0.7. Spine status was found to be myelomeningocele in 4.4% (n=19), low conus or tethered cord in 34.8% (n=151) and normal or fatty filum in 60.8% (n=264). Overall 62.2% were continent. ARM severity, lateral sacral ratio and spine status were each independent predictors of urinary continence on univariate and multivariable analysis. We conclude that in children born with ARM, the severity of ARM, lateral sacral ratio and spine status each independently predict urinary continence. These results allow us to better understand these complex patients and their ability to develop urinary continence. This is crucial in enabling proper patient and family counseling and thus, setting appropriate expectations.

Development of a multidisciplinary colorectal and pelvic health program: Program implementation and clinical impact

IntroductionPediatric patients with complex colorectal and genitourinary conditions often require coordinated multidisciplinary care; however, this coordinated care can be hard to structure and deliver. The purpose of this paper is to review the development and implementation of a multidisciplinary colorectal and pelvic health program, one year after the program's initiation. MethodsThis is an observational retrospective 1-year study (10/1/2017 to 9/30/2018). In fiscal year (FY) 2018, a multidisciplinary colorectal and pelvic health program was initiated.The program development incorporated bimonthly team meetings, educational conferences, and initiation of three clinics: a complex colorectal and genitourinary reconstruction clinic, a bowel management clinic, and a colonic motility clinic. Conditions treated included complex anorectal and cloacal malformations, Hirschsprung disease, and idiopathic constipation. The fiscal year was selected to provide comparative administrative data after program implementation. ResultsDuring the study period, 121 patients underwent comprehensive collaborative evaluation of which 58 (47%) were new to the institution compared to 12 (19%) new patients in the previous year (p < 0.001). In FY 2018, there were 130 procedures performed and 512 collaborative visits with an average of 47 visits per month. This was a 3.4-fold increase in visits compared to FY2017 (171 visits). Of the new patients, 60% (35/58), traveled a median of 181 miles, representing 33 statewide counties, and 4 states compared to a median of 93 miles in the previous fiscal year (p = 0.004). ConclusionThe development of a colorectal and pelvic health program is feasible and requires a collaborative approach, necessitating multiple service lines within an institution. Program creation and implementation can result in rapid institutional clinical growth by filling a local and regional need through coordinated multidisciplinary care. Level of evidenceIV

Complex Cloacal Malformations: The Application and Importance of Cloacagrams

AbstractCloaca is a rare complex anorectal malformation in female patients where the urinary, gynecologic, and gastrointestinal tracts empty through a single pathway, known as the common channel. Previously, cloacas were measured through endoscopic evaluation alone. In recent years, radiographic imaging of the cloaca with a 3D cloacagram, has been a valuable tool for the characterization of the specific anatomical variables in each cloaca, and provides additional information that is beneficial for the preoperative surgical planning. This article reviews the embryology of cloaca, as well as the classification, noninvasive imaging, cloacagram protocol, and surgical intervention.

A Multidisciplinary Approach to a Complex Anorectal Malformation and Urologic Anomaly

Abstract Background: Anorectal malformation (ARM) is a common congenital anomaly. The combination of a utricle cyst and an ARM is rare. The purpose of this video is to describe a multidisciplinary ...

Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: ALiteratureReview.

Patients born with complex anorectal malformations often have associated Müllerian anomalies, which might affect fertility and obstetrical outcomes. Other vertebral-anorectal-tracheoesophageal-renal-limbassociations, such as renal or cardiac anomalies, could also affect pregnancy intention, fertility rates, and recommendations about mode of delivery or obstetrical outcomes. Associated conditions present at birth, like hydrocolpos, could also potentially affect fertility. Depending on the complexity of the anomaly, primary reconstruction might include vaginoplasty, vaginal interposition, perineal body reconstruction, and extensive pelvic dissection. After the initial reconstruction, patients might have multiple additional surgeries for stoma reversal, bladder augmentation, and creation of conduits, all with potential for pelvic adhesions. Pregnancy intention, fertility rates, mode of delivery, and obstetrical outcomes data are limited in this patient population, making it challenging to counsel patients and their families. We sought to evaluate all available literature in an attempt to better counsel families. A PubMed literature search was undertaken to review this topic. Search terms of "cloaca," "anorectal malformation," "pregnancy," "cloacal exstrophy," "vaginal delivery," and "cesarean section" were used and citation lists from all identified articles were checked to ensure that all possible articles were included in the review. We also outline comorbidities from the fetal period to adulthood that might affect reproductive health. Of the articles on anorectal and cloacal anomalies, 13 reports were identified that covered obstetrical outcomes. They were in patients with previous anorectal malformation, cloaca, and cloacal exstrophy repair. Twenty-four pregnancies were reported in 16 patients. Two ectopic pregnancies, 5 spontaneous miscarriages, 1 triplet pregnancy, and 16 singleton pregnancies were reported with a total of 19 live births. Regarding the method of conception, 15/18 pregnancies occurred spontaneously and 3/18 were via assisted reproductive technology with invitro fertilization. There were 19 live births, of which at least 8 were preterm. Müllerian anatomy was reported in 8 of 13 articles. Only 2 patients underwent vaginal delivery (1 patient with repaired cloaca malformation had an operative vaginal delivery and 1 patient with repaired imperforate anus with rectovaginal fistula had a normal spontaneous vaginal delivery). The remaining patients all underwent a cesarean section. There were no reported cases of maternal mortality, and maternal morbidity was limited to recurrent urinary tract infections and worsening chronic kidney disease. There is a paucity of information regarding obstetrical outcomes in adult anorectal and cloaca patients. However, patients with previous cloacal repairs have achieved pregnancy spontaneously, as well as with invitro fertilization. Patients with repaired cloacal malformations are at increased risk of preterm birth and cesarean delivery. Most patients with cloacal anomalies have an associated Müllerian anomaly and therefore have an increased risk of preterm labor. From our review we conclude that contraception should be offered to patients not desiring pregnancy, and cesarean section is likely the preferred mode of delivery. On the basis of this review, we recommend proactive data collection of all such patients to document outcomes and collaboration among providers and between centers devoted to this complex patient population.

Anorectal malformation with rectobladder neck fistula: A distinct and challenging malformation

BackgroundRectobladder neck fistula is the highest and most complex anorectal malformation in boys and the only one that requires an abdominal approach, open or laparoscopic, for repair. The aim of this study was to describe the unique characteristics of rectobladder neck fistulas that warrant special attention and to describe the associated anatomic variants in the genitourinary tract. MethodsThe database of a tertiary medical center was retrospectively reviewed for all patients treated for rectobladder neck fistula, by our team in 1980–2011. Data on surgical history, associated and functional defects, treatment and outcome were collected by chart review. ResultsThe study group included 111 patients. The most common anatomic urologic defect was a single kidney in 37 patients (33.3%) and the most common functional urologic defect was vesicoureteral reflux in 40 patients (36%), including 11/37 patients with a single kidney (29.7%). Of the 40 patients who underwent cystoscopy, 16 (40%) had a higher than normal location of the verumontanum. Follow-up ranged from 2 to 290months (median 59). Urinary continence was achieved in 40 of the 61 patients (65.5%) for whom data were available, and fecal continence was achieved in 9 of the 69 patients (13%) for whom data were available. A sacral ratio of 0.4 or less was associated with lower rates of urinary control (23%) and fecal control (0%), relative to higher ratios. Twenty stomas (18%) were found to be located too distally, limiting the availability of the bowel for a pull through. ConclusionsRectobladder neck fistula carries a poor prognosis for bowel control and is associated with a high rate of urinary malformations that require long-term care. Pediatric surgeons need to be aware of these complications in order to provide proper treatment and parental counseling. Intra-vesical verumontanum is found in a surprisingly high percentage of patients. The combination of a single kidney with vesicoureteral reflux is common and should be closely followed to avoid renal deterioration. Special attention should be given to colostomy construction to avoid complications and unnecessary procedures. A sacral ratio of 0.4 or less is an indicator of poor fecal and urinary control.

Comparative Effectiveness of Imaging Modalities for the Diagnosis of Intestinal Obstruction in Neonates and Infants:: A Critically Appraised Topic

The purpose of this study was to critically appraise and compare the diagnostic performance of imaging modalities that are used for the diagnosis of upper and lower gastrointestinal (GI) tract obstruction in neonates and infants. A focused clinical question was constructed and the literature was searched using the patient, intervention, comparison, outcome method comparing radiography, upper GI contrast study, and ultrasound in the detection of upper GI tract obstruction such as duodenal atresia and stenosis, jejunal and ileal atresia, and malrotation and volvulus. The same methods were used to compare radiography and contrast enema in the detection of lower GI tract obstruction such as meconium plug syndrome, meconium ileus, Hirschsprung disease, and imperforate anus. Retrieved articles were appraised and assigned a level of evidence based on the Oxford University Centre for Evidence-Based Medicine hierarchy of validity for diagnostic studies. There were no sensitivities/specificities available for the imaging diagnosis of duodenal atresia or stenosis, jejunal or ileal atresias, meconium plug, and meconium ileus or for the use of cross-table lateral radiography for the diagnosis of rectal pouch distance from skin in imperforate anus. The retrieved sensitivity for the detection of malrotation on upper GI contrast study is 96%, and the sensitivity for the diagnosis of midgut volvulus on upper GI contrast study is 79%. The retrieved sensitivity and specificity for the detection of malrotation with volvulus on ultrasound were 89% and 92%, respectively. The retrieved sensitivity and specificity for the detection of Hirschsprung disease on contrast enema were 70% and 83%, respectively. The retrieved sensitivity of invertogram for the diagnosis of rectal pouch distance from skin in imperforate anus is 27%. The retrieved sensitivities of perineal ultrasound and colostography for the diagnosis of rectal pouch distance from skin in imperforate anus were 86% and 100%, respectively. There is limited evidence for the imaging diagnosis of duodenal atresia and stenosis, jejunal and ileal atresias, meconium plug, meconium ileus, and imperforate anus, with recommended practice based mainly on low-quality evidence or expert opinion. The available evidence supports the use of upper GI contrast study for the diagnosis of malrotation and volvulus, with ultrasound as an adjunct to diagnosis. Contrast enema is useful in the investigation of suspected Hirschsprung disease, but a negative study does not outrule the condition. Colostography is the investigation of choice for the work-up of infants with complex anorectal malformations before definitive surgical repair.

Congenital cloaca: Long-term follow-up results with emphasis on outcomes beyond childhood

Persistent cloaca remains a challenge for pediatric surgeons and urologists. Reconstructive surgery of cloacal malformations aims to repair the anorectum, urinary tract, and genital organs, and achieve fecal and urinary continence as well as functional genital tract capable for sexual activity and pregnancy. Unfortunately, even in most experienced hands these goals are not always accomplished. The endpoint of the functional development of bowel, urinary, and genital functions is the completion of patient’s growth and sexual maturity. It is unlikely that there will be any significant functional improvement beyond these time points. About half of the patients with cloaca attain fecal and urinary continence after their growth period. The remaining half stay clean or dry by adjunctive measures such as bowel management by enemas or ACE channel, and continent urinary diversion or intermittent catheterization. Problems related to genital organs such as obstructed menstruations, amenorrhea, and introitus stenosis are common and often require secondary surgery. Encouragingly, most adolescent and adult patients are capable of sexual life despite often complex vaginal primary and secondary reconstructions. Also, cloacal malformation does not preclude pregnancies, although they still are quite rare. Pregnant patients with cloaca require special care and follow-up to guarantee uncomplicated pregnancy and preservation of anorectal and urinary functions. Cesarean section is recommended for cloaca patients. The self-reported quality of life of cloaca patients appears to be comparable to that of female patients with less complex anorectal malformations.

Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations

PurposeCloacal malformations are the most complex type of anorectal malformation in females. This study aimed to report quality of life (QoL) of patients with a cloacal malformation for the first time in literature. Materials and MethodsFemale patients with an anorectal malformation participating in a follow-up program for congenital malformation survivors aged 5 or older were eligible for this study. QoL was assessed with the PedsQL™ 4.0 inventory. Scores of patients with a cloacal malformation (CM) were compared with those of female patients with rectoperineal or rectovestibular fistulas (RP/RV) and with reference data. ResultsA total of 59 patients (67% response rate; 13 patients with cloacal malformation) were included, QoL was assessed by patient self-report at median age of 12years (8–13), and by parent proxy-report at median age of 8years (5–12). There were no differences between groups regarding the presence of associated anomalies, with also no differences regarding anomalies in the urinary tract (CM vs. RP/RV=31% vs. 15%, p=0.237). Scores of the cloacal malformations group were similar to those of the comparison group, except the proxy-reported scores on school functioning (60.0 vs. 80.0, p=0.003). Proxy-reported scores of cloacal malformation patients were significantly lower than reference values on total QoL-score, psychosocial health, and emotional and school performance. Patients (irrespective of type of ARM) who suffered from fecal soiling reported significantly lower scores with regard to psychosocial health (71.7 vs. 81.7, p=0.034) and its subscale school performance (65.0 vs. 80.0, p<0.001). QoL-scores reported by cloacal malformation patients did not differ significantly from the reference values of the healthy population. Parents of cloacal malformation patients reported significantly lower total QoL, emotional and school performances, as well as a lower general psychosocial health for their children relative to reference data of healthy children. ConclusionPatients with cloacal malformations and females with less complex anorectal malformations report similar QoL. Parents of cloacal malformation patients report more problems on several psychosocial domains relative to the healthy reference group. To monitor these matters, long-term follow-up protocols should contain multidisciplinary treatment including periodical assessment of psychosocial well-being.

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in up to 60% of the cases. By homozygosity mapping and whole exome resequencing combined with high-throughput mutation analysis by array-based multiplex PCR and next-generation sequencing, we identified recessive mutations in the gene TNF receptor-associated protein 1 (TRAP1) in two families with isolated CAKUT and three families with VACTERL association. TRAP1 is a heat shock protein 90-related mitochondrial chaperone possibly involved in antiapoptotic and endoplasmic reticulum-stress signaling. Trap1 is expressed in renal epithelia of developing mouse kidney E13.5 and in the kidney of adult rats, most prominently in proximal tubules and in thick medullary ascending limbs of Henle’s loop. Thus, we identified mutations in TRAP1 as highly likely causing CAKUT or CAKUT in VACTERL association.