A call to ARMs: Accurate identification of the anatomy of the rectourethral fistula in anorectal malformations

© 2019 Elsevier Inc. Recto-urethral fistulae are the most common finding in males born with an anorectal malformation (ARM). A high pressure distal colostogram is an important tool in visualizing the fistula, although the precise level at which the fistula communicates with the urethra may be difficult to interpret and is not reported in a uniform manner. This anatomy affects the surgical plan; determining the likelihood that the rectum is reachable via a posterior sagittal incision or better approached through the abdomen via laparoscopy or laparotomy helps counsel families and stratifies diagnoses for outcomes work. Herein we present a figure used at our Center to assist with correlating findings on the distal colostogram with the anatomic level of the recto-urethral fistula in males with anorectal malformations

Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review

© 2018 North American Society for Pediatric and Adolescent Gynecology Patients born with complex anorectal malformations often have associated Müllerian anomalies, which might affect fertility and obstetrical outcomes. Other vertebral-anorectal-tracheoesophageal-renal-limb associations, 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 in vitro 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 in vitro 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

The Mullerian Black Box: Predicting and defining Mullerian anatomy in patients with cloacal abnormalities and the need for longitudinal assessment

© 2018 Introduction: Most patients with a cloacal malformation have a Mullerian anomaly. We sought to examine our patients with a cloacal malformation to determine the proportion of them we felt we knew their Mullerian anatomy and which proportion we felt would most benefit from longitudinal assessment to define their anatomy, reproductive potential, and risk of outflow tract obstruction after puberty. We also compared the preoperative assessment of reproductive anatomy (pelvic ultrasound, MRI, cloacagram, and vaginoscopy) and intra-operative abdominal findings (at the time of primary cloacal reconstruction or subsequent abdominal procedures) to see how these correlated with and which preoperative assessment tool was most predictive of intraoperative anatomy. We also sought to confirm what we expected to be a lack of ovarian pathology. Methods: A single site retrospective chart review was performed on all patients with a cloacal anomaly seen between May 2014 and September 2017. Preoperative assessment (pelvic ultrasound, MRI, cloaca gram, and vaginoscopy) and operative reports (both primary reconstruction and later abdominal procedures) were reviewed to ascertain Mullerian and ovarian anatomy. Results: 30 of 36 (83%) of patients had defined Mullerian anatomy after preoperative assessment (pelvic ultrasound, MRI, cloacagram, and vaginoscopy) with or without the addition intraoperative assessment of Mullerian structures obtained during laparoscopy or laparotomy. 19/30 (63%) had duplication of their Mullerian structures. 25/36 (69%) had intraoperative assessment of Mullerian anatomy during laparoscopy or laparotomy. In this group, preoperative assessment with pelvic ultrasound correlated in 4/8 patients (50%), MRI correlated in 3/4 patients (75%), cloacagram in 10/15 patients (67%), and vaginoscopy in 23/25 patients (92%). 14/36 (39%) patients were found to require longitudinal assessment to define anatomy, reproductive potential or risk of outflow tract obstruction after puberty. Patients with ovarian findings described at the time of laparoscopy or laparotomy had no evidence of ovarian pathology. Conclusions: The majority of patients with cloaca in our series (83%) had their Mullerian anatomy defined by either preoperative assessment and/or findings at the time of laparoscopy or laparotomy. Duplication of the vagina and uterus was the most commonly described Mullerian anatomy (63%) in our series. Vaginoscopy appears to be superior to pelvic ultrasound, MRI, and cloacagram in predicting Mullerian anatomy. Fourteen of our 36 (39%) patients will require longitudinal assessment follow for reproductive potential and/or risk of outflow tract obstruction after puberty as their Mullerian anatomy is not known. There was no evidence of ovarian pathology in any cloaca patient. While we felt as though we could define Mullerian anatomy in most of our patients, any opportunity for intraoperative assessment of Mullerian anatomy should be utilized and therefore teams who are involved in the management of these patients must have a systematic and collaborative method established to ensure that Mullerian structures are thoroughly evaluated intra-operatively and documented in a standardized fashion. Type of study: Retrospective Chart review. Level of Evidence: III

Assessing the benefit of reoperations in patients who suffer from fecal incontinence after repair of their anorectal malformation

© 2020 Elsevier Inc. Background and Aim: Patients with a previously repaired anorectal malformation (ARM) can suffer from complications which lead to incontinence. Reoperation can improve the anatomic result, but its impact on functional outcomes is unclear. Methods: We performed a retrospective cohort study of patients with a previously repaired ARM who underwent redo PSARP at our Center and compared results at initial assessment and 12 months after redo. Results: One hundred fifty-three patients underwent a redo PSARP for anoplasty mislocation (n = 93, 61%), stricture (n = 55, 36%), remnant of the original fistula (n = 28, 18%), or rectal prolapse (n = 11, 7%). Post-redo complications included stricture (n = 33, 22%) and dehiscence (n = 5, 3%). At 1-year post-redo, 75/153 (49%) are on laxatives only, of whom 57 (76%) are continent of stool. Of the remaining 78 (51%) patients, 61 (78%) are clean (≤ 1 accident per week) on enemas. Interestingly, 16/79 (20%) of patients with expected poor continence potential were continent of stool on laxatives. Overall, 118/153 (77%) are clean after their redo. Quality of life (76.7 vs. 83.8, p = 0.05) and Baylor continence (29.2 vs. 17.7, p =\u3c0.0001) scores improved. Conclusion: Patients with fecal incontinence after an ARM repair can, with a reoperation, have their anatomy corrected which can restore continence for many, and improve their quality of life. Level of Evidence: IV. Type of study: Retrospective cohort study

Assessment of the Heineke–Mikulicz anoplasty for skin level postoperative anal strictures and congenital anal stenosis

© 2018 Elsevier Inc. Introduction: Acquired skin-level strictures following posterior sagittal anorectoplasty (PSARP) and some rare cases of congenital anal stenosis can be managed using a Heineke–Mikulicz like anoplasty (HMA). We hypothesized that this procedure was an effective, safe, and durable outpatient procedure in select patients. Methods: We retrospectively reviewed all patients who underwent HMA for skin level strictures following PSARP or for certain congenital anal stenoses from 2014 to 2017. Results: Twenty-eight patients (19 males, 9 females) with a mean age of 5.8 years (range 0.5–24.4) underwent HMA. Twenty-six had a prior PSARP, of which 18 were redo, and 8 were primary procedures. Two patients had congenital skin level anal stenosis. The mean follow up was 1.0 years (range 0.4–2.9). The average preprocedure anal size was Hegar 8, which after HMA increased 8 Hegar sizes to 16 (95% CI 7–9, p \u3c 0.001). There were no operative complications. One patient restenosed and required a secondary procedure. Conclusion: HMA is a safe procedure for skin-level anal strictures following PSARP (primary and redo) and can also be used in some rare cases of congenital anal stenosis. Long-term follow up to determine the restricture rate is ongoing. A plan to do an HMA if a stricture develops may offer an alternative to routine anal dilations, particularly after a redo PSARP in an older child. Type of study: Case series. Level of evidence: Level IV

Presacral masses and sacrococcygeal teratomas in patients with and without anorectal malformations: A single institution comparative study

© 2018 Elsevier Inc. Background: Despite variability at presentation, presacral masses in patients with and without anorectal malformations (ARM) appear histologically similar. The purpose of this study was to identify differences in oncologic outcomes between these two groups. Methods: A retrospective review was performed utilizing our institutional cancer and colorectal and pelvic reconstruction databases for patients with presacral masses and sacrococcygeal teratomas between 1990 and 2017. Data captured included age at surgical resection, type of ARM, tumor location within the pelvis, tumor histopathology, tumor size, adjuvant chemotherapy, recurrence, and follow-up. Results: Forty-six patients comprised our cohort, of whom 12 had an ARM. The median age was older at resection for those with an ARM (1.4 years; range 1 day to 29.4 years) compared to those without an ARM (9 days; range 0 days to 6.9 years) (p = 0.01). The mean tumor size was 2.5 cm in patients with an ARM compared to 6.0 cm in patients without an ARM (p = 0.036). All patients with ARM had exclusively intrapelvic tumors, and histopathology included mature teratoma (8), yolk sac tumor (1), lipoma (1), and unknown (2). Tumor location for patients with sacral and presacral masses without ARM included exclusively extrapelvic (10), primarily extrapelvic with large intrapelvic component (7), primarily intrapelvic with extrapelvic component (1), exclusively intrapelvic (8), and unknown (8). Histopathology for patients with presacral masses without ARM included mature teratoma (20), immature teratoma (7), yolk sac tumor (3), ganglioneuroma (1), neuroblastoma (1), benign epithelial cyst (1), and unknown (1). Tumor recurrence rate was similar between patients with ARM (n = 3, 25%) and those without an ARM (n = 5, 15%) (p = 0.41). The 5-year event free survival was 65% (95% CI: 25%–87%) in the group with ARM and 81% (95% CI: 60%–92%) in the group without ARM (p = 0.44). Conclusion: Sacral and presacral masses in patients with ARM are resected at a later age and are more likely to be intrapelvic. They appear histologically similar and have similar rates of recurrence and malignancy when compared to patients without ARM. Level of Evidence: III Type of Study: Retrospective comparative study

Gynecologic anatomic abnormalities following anorectal malformations repair

© 2017 Elsevier Inc. Background/aim: Patients may present with gynecologic concerns after previous posterior sagittal anorectoplasty (PSARP) for repair of an anorectal malformation (ARM). Common findings include an inadequate or shortened perineal body, as well as introital stenosis, retained vaginal septum, and remnant rectovestibular fistula. An inadequate or shortened perineal body may impact fecal continence, sexual function and recommendations regarding obstetrical mode of delivery. We describe our experience with female patients referred to our center for evaluation of their previously repaired ARM, with a specific focus on perineal body anatomy and concomitant gynecologic abnormalities. We outline our collaborative evaluation process and findings as well as subsequent repair and outcomes. Material/methods: A single site retrospective chart review from May 2014 to May 2016 was performed. Female patients with a history of prior ARM repair who required subsequent reoperative surgical repair with perineoplasty were included. The decision for reoperation was made collaboratively after a multidisciplinary evaluation by colorectal surgery, urology, and gynecology which included examination under anesthesia (EUA) with cystoscopy, vaginoscopy, rectal examination, and electrical stimulation of anal sphincters. The type of original malformation, indication for reoperative perineoplasty, findings leading to additional procedures performed at time of perineoplasty, postoperative complications, and the length of follow up were recorded. Results: During the study period 28 patients were referred for evaluation after primary ARM repair elsewhere and 15 patients (60%) met inclusion criteria. Thirteen patients (86.6%) originally had a rectovestibular fistula with prior PSARP and 2 patients (13.4%) originally had a cloacal malformation with prior posterior sagittal anorectovaginourethroplasty. The mean age at the time of the subsequent perineoplasty was 4.6 years (0.5–12). Patients had an inadequate perineal body requiring reoperative perineoplasty due to: anterior mislocation of the anus (n = 11, 73.3%), prior perineal wound dehiscence with perineal body breakdown (n = 2, 13.4%), acquired rectovaginal fistula (n = 1, 6.6%), and posterior mislocated introitus with invasion of the perineal body (n = 1, 6.6%). During the preoperative evaluation, additional gynecologic abnormalities were identified that required concomitant surgical intervention including: introital stenosis (n = 4, 26.6%), retained vaginal septum (n = 3, 20%) and remnant recto vestibular fistula (n = 2, 13.3%). Conclusions: Patients with a previously repaired ARM may present with gynecologic concerns that require subsequent surgical intervention. The most common finding was an inadequate perineal body, but other findings included introital stenosis, retained vaginal septum and remnant recto vestibular fistula. Multidisciplinary evaluation to assess and identify abnormalities and coordinate timing and surgical approach is crucial to assure optimal patient outcomes. Type of study: Case series with no comparison group. Level of evidence: IV

Surgical management of functional constipation: An intermediate report of a new approach using a laparoscopic sigmoid resection combined with malone appendicostomy

© 2018 Elsevier Inc. Introduction: We previously reported our surgical technique for functional constipation for patients who have failed medical management using a novel collaborative approach with gastroenterology input, pre-operative contrast enema, colonic manometry, and laxative protocol combined with a laparoscopic colonic resection with Malone appendicostomy. Now we report our intermediate outcomes. Methods: Patients who failed bowel management program for functional constipation were reviewed from 3/2014–2/2017. Patients with Hirschsprung disease, anorectal malformation, tethered cord, spina bifida, Trisomy 21, cerebral palsy, mitochondrial disease, or prior colon resection were excluded. Results: Of 31 patients (14 females; median age 12 years, follow-up 10.3 months) with functional constipation and failed medical management, 26 (84%) had preoperative colonic manometry which, in addition to the contrast enema, guided laparoscopic colon resection. Ten patients (32.3%) are clean with no flushes (1 takes no laxatives, 8 are on low dose laxatives only, and 1 patient was clean on laxatives but chose to switch back to flushes). Of the 21 patients that remain on antegrade flushes, 20 (95.2%) are clean, and one patient (4.8%) continues to soil. We define clean as no soiling and no abnormal stool burden on x-ray. Laxative trials are planned for all patients on an antegrade flush regimen. Conclusion: Our intermediate results show that laparoscopic colon resection with Malone appendicostomy allows the majority of patients to be clean on antegrade flushes, and some to be on no or minimal laxatives. Type of study: Retrospective review. Level of Evidence: