HIV-associated rectovaginal fistulae in children: a single-centre retrospective study in the antiretroviral era.

PURPOSE: Acquired rectovaginal fistulae (RVF) are a complication of paediatric HIV infection. We report our experience with the surgical management of this condition. METHODS: We retrospectively reviewed the records of paediatric patients with HIV-associated RVF managed at Chris Hani Baragwanath Academic Hospital (2011-2023). Information about HIV management, surgical history, and long-term outcomes was collected. RESULTS: Ten patients with HIV-associated RVF were identified. Median age of presentation was 2 years (IQR: 1-3 years). Nine patients (9/10) underwent diverting colostomy, while one demised before the stoma was fashioned. Fistula repair was performed a median of 17 months (IQR: 7.5-55 months) after colostomy. An ischiorectal fat pad was interposed in 5/9 patients. Four (4/9) patients had fistula recurrence, 2/9 patients developed anal stenosis, and 3/9 perineal sepsis. Stoma reversal was performed a median of 16 months (IQR: 3-25 months) after repair. Seven patients (7/9) have good outcomes without soiling, while 2/9 have long-term stomas. Failure to maintain viral suppression after repair was significantly associated with fistula recurrence and complications (φ = 0.8, p < 0.05). CONCLUSION: While HIV-associated RVFs remain a challenging condition, successful surgical treatment is possible. Viral suppression is a necessary condition for good outcomes.

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

Comparison in the incidence of anorectal malformations between a first- and third-world referral center.

PURPOSE: Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy. METHODS: A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed. RESULTS: 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients. CONCLUSION: With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.

The "rescue operation" for patients with cloacal exstrophy and its variants.

INTRODUCTION: A common error in the initial operative management of patients with cloacal exstrophy is to create an ileostomy leaving the colon defunctionalized and connected to the urinary tract. These patients benefit from a "rescue operation" to give them the best opportunity to be future pull-through candidates. METHODS: Nineteen patients were identified who underwent an inadequate diversion during the newborn period, leaving a distal defunctionalized colon, and required a "rescue operation". A retrospective review of the medical records of these patients was performed. RESULTS: A piece of colon was disconnected from the urinary tract, rescued from the pelvis, and incorporated into the fecal stream. The original stoma was closed, and an end colostomy was created. Fifteen patients were females and four were males. The length of rescued colon ranged from 5.5 to 20 cm. Symptoms present before the operation included: hyperchloremic acidosis (6), urinary tract infections (6), failure to thrive (5), sepsis (1), dehydration (1), and TPN dependent (1). There was resolution of these symptoms post-operatively. On follow up, 10 patients still have their colostomies as we are waiting for continued colonic growth, 6 patients had a pull-through after responding to our bowel management program through the stoma, 2 patients have a permanent stoma, and one patient expired. CONCLUSION: When patients with cloacal exstrophy, or its variants, receive an ileostomy or proximal colostomy at birth, a rescue operation should be attempted.

Classification and management of rectal prolapse after anorectoplasty for anorectal malformations.

PURPOSE: To suggest a classification, describe the risk factors and management of rectal prolapse after anorectoplasty for anorectal malformations (ARMs). METHODS: We classified prolapse as minimal (rectal mucosa visible with Valsalva manoeuvre), moderate (prolapse <5 mm without Valsalva), evident (>5 mm without Valsalva) and compared patients with and without prolapse within our ARM-population. RESULTS: Among 150 patients, 40 (27 %) developed prolapse: 25 minimal, 6 moderate, 9 evident. Prolapse affected 33 % of males (9 % of perineal fistulas, 38 % of bulbar, 71 % of prostatic, 60 % of bladder neck and 13 % without fistula) and 21 % of females (9 % of perineal, 30 % of vestibular, 50 % of cloacas, and 25 % without fistula). Risk factors for prolapse were: tethered cord (40 vs 24 %), vertebral anomalies (39 vs 24 %), laparoscopic-assisted anorectoplasty (LAARP) (75 vs 25 %), and colostomy at birth (49 vs 9 %). Redo anorectoplasty was not associated with prolapse. Symptoms were present in 11 patients (28 %): in 7 % with minimal, 33 % with moderate and 77 % with evident prolapse. Nine patients (2 moderate, 7 evident) underwent surgical correction. CONCLUSION: Severe ARMs, tethered cord, vertebral anomalies, colostomy, and LAARP predispose to rectal prolapse. Classifying prolapse allows to predict symptoms and need for surgical correction, and to compare outcomes among different centers.

Neonatal Sacrococcygeal Fetiform Teratoma Containing Bowel: A Case Report.

A fetiform sacrococcygeal teratoma (homunculus) is a highly differentiated subgroup of mature cystic teratoma that resembles a malformed fetus. These tumors originate at the base of the coccyx and may vary in their intrapelvic and extrapelvic extent and location. It is important to differentiate this anomaly from fetus-in-fetu which has a higher degree of structural organization. A 5-day-old neonate presented with a type II sacrococcygeal fetiform teratoma. The mass contained both cystic and solid components. Upon surgical excision and coccygectomy, fully formed bowel was found inside the mass, as well as bones and other well-defined structures. The tumor was confirmed to be fully excised and no malignant or immature features were found on histopathological examination. The patient was last seen growing well with an alpha-fetoprotein of 3.5 µg/L, 14 months after resection.

Coloboma and anorectal malformations: a rare association with important clinical implications.

PURPOSE: In a patient with an anorectal malformation (ARM), the presence of a coloboma is commonly associated with other serious anomalies. METHODS: Our database and the world literature were reviewed searching for associated defects in patients with ARM and coloboma. RESULTS: Of 2,482 ARMs in our database, 11 had coloboma (0.4%): 2 were females. No specific associated type of ARM was identified. Six patients were developmentally delayed. Eight had a cardiac anomaly (3 had TAPVR, 2 VSD, 3 ASD), five required a cardiac operation. Five had a gastrointestinal anomaly (3 malrotation, 1 biliary and 1 duodenal atresia). Six had eye and seven had ear anomalies. Five had a genetic abnormality. In the literature, 71 patients with ARM and coloboma were found: 65 % were females. 24% died prematurely. 74% were developmentally delayed. 70% had a cardiac malformation (35% had TAPVR, 38% required an operation). 57% had gastrointestinal anomalies (31% malrotation, 31 % biliary atresia, 17% Hirschsprung disease). Eye and ear anomalies were present in 80 and 97% of patients, respectively. 81% had a genetic abnormality. CONCLUSIONS: An ocular inspection in patients born with ARM is crucial. The finding of a coloboma should increase awareness to evaluate for a developmental, cardiologic or gastrointestinal anomaly.

Single-stage procedures for anorectal malformations: A systematic review and meta-analysis.

BACKGROUND: The purpose of this study is to describe all published studies of single-stage procedures for anorectal malformations and to perform a meta-analysis of studies that compared single-stage to staged procedures. METHODS: Searches were conducted in Pubmed, Medline, Embase and CENTRAL. Meta-analysis was performed in RevMan and expressed as forest plots with odds ratios (OR) and 95% confidence intervals (CI). RESULTS: Thirty-eight studies were included in the narrative synthesis. Nine studies were included in the meta-analysis, representing 537 patients. The majority (70%) of patients included in this meta-analysis had either perineal or vestibular fistulas. Surgical site infection (SSI) was defined as any reported infection involving the neoanus (both superficial infection and dehiscence) and occurred in 51 of the 291 patients who underwent single-stage procedures, and 26 of the 244 patients who underwent staged procedure. Meta-analysis showed a 2.2 times higher risk of surgical site infection (SSI) amongst patients who undergo single-stage procedures (OR 2.22, 95% CI 1.26, 3.92). Six of the 293 patients (2%) who underwent single-stage procedures required a rescue ostomy for wound dehiscence. In LMIC the risk of wound dehiscence was three-fold higher in single-stage (36/202) compared to staged procedures (12/126) (OR 3.07, 95% CI 1.42, 6.63). In HIC there was no evidence of an increased risk of wound dehiscence in patients who underwent a single-stage (15/91) compared to a staged procedure (14/118) (OR 1.51, 95% CI 0.65, 3.51). There is no evidence of a difference between single-stage versus staged procedures with regards to functional outcomes including voluntary bowel movements (79/90 versus 111/128), soiling (24/165 versus 20/203) or constipation (27/90 versus 36/128). CONCLUSION: This systematic review provides further evidence that single-stage procedures for selected patients with anorectal malformations are safe. Whilst there is evidence of an increased risk of SSI, this did not translate to a significant difference in long-term functional outcomes. LEVELS OF EVIDENCE: Level II.

Paediatric Anogenital Condylomata Acuminata: An assessment of patient characteristics and the need for surgical intervention.

BACKGROUND: Anogenital Condylomata Acuminata (AGCA) are caused by Human Papilloma Virus (HPV), which is one of the most common sexually transmitted illnesses in adults. Although commonly seen in the paediatric population, especially in the setting of immunocompromise, literature regarding transmission, viral type and management in this population is scant. The aim of this study was to assess the profile of patients presenting with anogenital warts in light of associated immunocompromise with Human Immunodeficiency Virus (HIV). METHODS: Three years of patient records from Chis Hani Baragwanath Academic Hospital were reviewed (January 2017 - December 2019). Information collected included: gender, age of presentation, age at intervention, type and duration of medical treatment, type and number of surgical interventions, HIV status, and histology results. Fisher's and Pearson's test were used to assess correlation between immune status and surgical interventions necessary. RESULTS: In the time frame considered, we treated 66 patients with AGCA . The average age was 4 years old (1-14). HIV status was recorded in 30 patients (15 positive and 15 negative). Only one patient out of 66 had a history of sexual abuse. Whilst the proportion of patients who required surgical intervention in the HIV negative and HIV positive groups was equal (2:1), the total number of surgical interventions needed to achieve clearance was significantly more in those with HIV (p = 0.03). CONCLUSIONS: HIV positive patients with AGCA require more surgical interventions compared to HIV negative individuals. Further research will be conducted to ascertain the sub-type of HPV infection in this subset of patients and to assess if this impacts follow-up for future malignancy. Further research also needs to be conducted to ascertain whether surgical intervention should be instituted earlier in the treatment protocol for HIV positive children.

Globalization in Pediatric Surgical Training: The Benefit of an International Fellowship in a Low-to-Middle-Income Country Academic Hospital.

OBJECTIVE: A relative oversupply of pediatric surgeons led to increasing difficulties in surgical training in high-income countries (HIC), popularizing international fellowships in low-to-middle-income countries (LMIC). The aim of this study was to evaluate the benefit of an international fellowship in an LMIC for the training of pediatric surgery trainees from HICs. METHODS: We retrospectively reviewed and compared the prospectively maintained surgical logbooks of international pediatric surgical trainees who completed a fellowship at Chris Hani Baragwanath Academic Hospital in the last 10 years. We analyzed the number of surgeries, type of involvement, and level of supervision in the operations. Data are provided in mean differences between South Africa and the respective home country. RESULTS: Seven fellows were included. Operative experience was higher in South Africa in general (Δx̅ = 381; 95% confidence interval [CI]: 236-656; p < 0.0001) and index cases (Δx̅ = 178; 95% CI: 109-279; p < 0.0001). In South Africa, fellows performed more index cases unsupervised (Δx̅ = 71; 95% CI: 42-111; p < 0.0001), but a similar number under supervision (Δx̅ = -1; 95% CI: -25-24; p = 0.901). Fellows were exposed to more surgical procedures in each pediatric surgical subspecialty. CONCLUSION: An international fellowship in a high-volume subspecialized unit in an LMIC can be highly beneficial for HIC trainees, allowing exposure to higher caseload, opportunity to operate independently, and to receive a wider exposure to the different fields of pediatric surgery. The associated benefit for the local trainees is some reduction in their clinical responsibilities due to the additional workforce, providing them with the opportunity for protected academic and research time.

Posterior Cloacal Variant with Clitorolabial Transposition and a Rectoperineal Fistula.

We present a case and discuss the management of a posterior cloacal variant not as yet described in the literature. A 5-week-old infant presented to our institution with a posterior cloacal variant and transposition of the clitoris and labia. After initial radiological investigations, staged operative intervention was performed over a 1-year period. This included an initial laparotomy (with drainage of hydrocolpos and formation of a colostomy), a left ureteric reimplantation and a posterior sagittal anorectoplasty due to a rectoperineal fistula. The child is under continued long-term follow-up by our specialist pediatric surgical team.

Clinical Quiz-A Rare Case of Anal Canal Duplication in the Context of Currarino Syndrome.

Currarino syndrome (CS) is a rare condition that presents with any combination of a sacral defect, a presacral mass, and an anorectal malformation. This collection, referred to as Currarino's triad, may not necessarily present as all three abnormalities in the diagnosis of the syndrome. Anal canal duplication (ACD) is an even rarer occurrence. We present a case that lies on the CS spectrum with an associated ACD and discuss a complex surgical challenge that necessitated a customized management plan, devised through a multidisciplinary approach.

Transanal irrigation (TAI) in the paediatric population: Literature review and consensus of an Italian multicentre working group.

Constipation and fecal incontinence in pediatric patients are conditions due to either functional or organic bowel dysfunction and may represent a challenging situation both for parents, pediatricians, and pediatric surgeons. Different treatments have been proposed throughout the past decades with partial and alternant results and, among all proposed techniques, in the adult population the Transanal Irrigation (TAI) has become popular. However, little is known about its efficacy in children. Therefore, a group of Italian pediatric surgeons from different centers, all experts in bowel management, performed a literature review and discussed the best-practice for the use of TAI in the pediatric population. This article suggests some tips, such as the careful patients' selection, a structured training with expert in pediatric colorectal diseases, and a continuous follow-up, that are considered crucial for the full success of treatment.

Devastating Outcomes of Traditional Enemas: Unusual Indications for Well-Known Operations.

Background Despite serious health risks having been described, traditional enemas are still often used in African traditional medicine. We aim to report two cases of complications secondary to traditional enemas, to illustrate how severe the injuries can be, and to describe the use of a Swenson type endoanal pull-through and a posterior sagittal anorectoplasty (PSARP) as surgical options. Case Description A 2-year-old girl presented with a necrotic rectum after a traditional enema administration. At admission, she required a laparotomy, colostomy fashioning, and extensive debridement of her rectum and perineum. She subsequently had a pull-through of the descending colon using a PSARP approach, a covering loop ileostomy, and a Malone Antegrade Continence Enema. The ileostomy was reversed at the age of 3 years of age and she is now clean with rectal washouts. The second case was a one- and a half-year-old boy with full-thickness burns to the perineum and rectum secondary to a hot-water enema. A colostomy was initially brought out and pulled through 7 months post the initial surgery. He is now growing well and is fully continent to stools. Conclusions The potential complications associated with the practice of administering at-home enemas can be quite devastating. A transanal pull-through and a PSARP have been proven to be successful techniques in patients who have suffered rectal burns due to traditional enemas.

Rectal Perforation following High-Pressure Distal Colostogram.

In patients with anorectal malformations and a colostomy, the high-pressure distal colostogram is the technique of choice to determine the type of malformation and thus to plan the surgical repair. Perforations associated with high-pressure distal colostograms are very rare. The aim of our study was to identify pitfalls to prevent perforation secondary to high-pressure distal colostogram. The study included two male patients and was complicated with rectal perforations secondary to high-pressure distal colostogram. Both patients had an imperforate anus without a fistula. One patient had extraperitoneal rectal perforation with progressive contrast spillage into the peritoneum and demised. The other patient developed an extraperitoneal perforation and an associated necrotizing fasciitis of his perineum and scrotum, but he recovered well after debridement. Two further cases of rectal perforation have been described in the literature. Rectal perforation, although rare, is a described life-threatening complication secondary to high-pressure distal colostogram. The cause is excessive contrast pressure. Injection of contrast should be stopped once the distal end of the colon has a convex shape. Intraperitoneal perforation may cause hypovolemic/septic shock, and patients need to be appropriately resuscitated and should undergo laparotomy. Extraperitoneal perforation requires close monitoring for possible local complications, which may necessitate early debridement.

Image of the Month: High Pressure Distal Colostogram in a Patient with an Anorectal Malformation.

An adequately performed high pressure distal colostogram is crucial to plan surgery in male patients born with anorectal malformations. We present two male patients that underwent a divided sigmoid colostomy with distal mucus fistula in the neonatal period and at 6 months of age underwent a high pressure distal colostogram. In the discussion, we will give some tricks beyond the known rules: how to correctly interpret a high pressure distal colostogram, how to identify the level of a recto-urinary fistula, and how to accurately plan the surgical approach.

A Surgical Technique to Repair Perineal Body Disruption Secondary to Sexual Assault.

Perineal trauma is uncommon in the pediatric population and it is estimated that 5 to 21% is secondary to sexual abuse. We aim to present a proposed surgical technique to repair perineal injuries secondary to sexual assault in female children. The technique is based on the posterior sagittal anorectoplasty (PSARP) for repairing anorectal malformations and, between 2017 and 2019, it was used to treat three girls (2 months, 2 years, and 8 years of age) with fourth-degree perineal injuries secondary to sexual assault. One of them underwent laparotomy and Hartmann's colostomy for an acute abdomen. Two underwent wound debridement and suturing and only had a stoma fashioned at 5 days and 6 weeks posttrauma, respectively. The perineal repair was performed 2, 6, and 7 weeks postinjury and done as follows: with the child prone in jack-knife position, stay-sutures are placed on the common wall between the rectum and the vagina. Using a needle tip diathermy, a transverse incision is performed below the sutures lifting the anterior rectal wall up. Stay sutures are then positioned on the posterior wall of the vaginal mucosa. The incision between the walls is deepened until the rectum and the vagina are completely separated. The deep and superficial perineal body is then reconstructed using absorbable sutures and an anterior anoplasty and an introitoplasty are performed. The stoma in each was closed 6 weeks postreconstruction. At follow-up, now 1 year or more postrepair, all patients have an excellent cosmetic outcome and are fully continent for stools.

Treating pediatric colorectal patients in low and middle income settings: Creative adaptation to the resources available.

Colorectal disease profiles for children in low- and middle-income settings (LMIC) are characterized by late presentation, increased complications and limited follow-up in many cases. There is a high prevalence of infectious conditions causing secondary colorectal disease such as Mycobacterium Tuberculosis(TB), Human Immunodeficiency Virus(HIV) and Human Papilloma Virus(HPV), which also impact the management of other primary colorectal conditions, such as wound-healing and intestinal anastomosis. Perineal trauma from sexual assault, motor vehicle or pedestrian accidents, burns, and traditional enemas are commonly encountered and may require adaptation of principles used in treatment of congenital anomalies such as Hirschsprung's disease and Anorectal Malformations for reconstruction. Endemic conditions in certain LMIC require further research to delineate underlying causes and optimize management, such as "African" degenerative visceral leiomyopathy, congenital pouch colon in the Indian subcontinent, and congenital H-type rectal fistulae prevalent in Asia. These unique disease profiles require creative adaptations of resources within poor healthcare infrastructure settings. These special challenges and pitfalls in colorectal care and complications of adverse socioeconomic conditions, are discussed.

Do social circumstances dictate a change in the setup of an anorectal malformation clinic?

BACKGROUND/PURPOSE: To assess the number of patients seen at the colorectal clinic of a low-to-middle income-country with emphasis on their social circumstances. METHODS: Between January 2013 and December 2018 we recorded the number of visits to colorectal clinic. From February 2019 prospective data on patients with anorectal malformations (ARMs) focusing on their social conditions (type of housing and sanitation) and HIV-exposure were collected. RESULTS: At the clinic 452 visits were recorded in 2013, 608 in 2014, 904 in 2016, 1392 in 2017, and 1968 in 2018. The ARM cohort included 100 patients: at the time of delivery the HIV status of 74 mothers was negative, positive in 21, and unknown in 5. None of the HIV-exposed patients seroconverted to HIV positive (average follow-up:39 months). Seventy-four patients live in formal settlements, 23 in informal, and 3 in unknown type. Forty-six patients have inside toilets, 39 outside flushing toilets, 10 outside pit latrines, 2 community toilets, and 3 an unknown sanitation. CONCLUSIONS: The clinic work-load has increased during the past years. A significant proportion of our patients are HIV-exposed, do not live in formal houses and do not have inside toilets. Tailored strategies for a successful surgical plan and bowel management need to be implemented. LEVEL OF EVIDENCE: II.

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.

Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula. Materials and Methods: Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (range: 4-1,106 days). Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no fistula, and "unclear anatomy" example. Their assessments were compared with the intraoperative findings (kappa) for two scoring rounds with an interval of 6 months (intraobserver variation). Agreement among the surgeons' scores (interobserver variation) was also calculated using Krippendorff's alpha. A kappa over 0.75 is considered excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were asked to score the images in "poor" and "good" quality and to provide their years of experience in ARM treatment. Results: Agreement between the image-based rating of surgeons and the intraoperative findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher (Krippendorff's alpha between 0.40 and 0.45). Years of experience in ARM treatment does not seem to influence the scoring. The mean intraobserver variation between the two rounds is 0.64. Overall, the quality of the images is considered poor. Images categorized as having a good quality result in a statistically significant higher kappa (mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of bad-quality images (mean: 0.25 and 0.23, respectively). Conclusions: There is poor agreement among experienced pediatric colorectal surgeons on preoperative colostograms. Techniques and analyses of images need to be improved in order to generate a homogeneous series of patients and make comparison of outcomes reliable.