Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies.

Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL. Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing. Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1. Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.

VACTERL Association in Patients With Metopic Synostosis: Is There a Link?

VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.

Long-term (> 10 years) bowel function of anorectal malformations: a retrospective single-center study.

PURPOSE: To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors. METHODS: ARM patients with follow-up data > 10 years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded. Rintala score and PedsQL 4.0 were used to assess bowel function score (BFS) and quality of life (QoL). Based on the results, patients were divided into satisfactory group with BFS ≥ 17 and unsatisfactory group with it < 17. Comparisons between the groups were made. RESULTS: Among the 81 patients were 44 males and 37 females. Follow-up time was 138 (126,151) months. 16 (19.75%) patients had associated anomalies. 23 (28.40%) patients had reoperations, and fistula recurrence was the most common reason. BFS of the patients was 20 (18,20). QoL score was 100 (100,100), which correlated positively with BFS (r = 0.648, P < 0.001). The satisfactory and the unsatisfactory groups had 69 and 12 cases, and their BFS were 20 (20,20) and 11 (8,15) respectively, which had statistical difference (P < 0.001). Total QoL score and psycho-social health score of the unsatisfactory group were lower (P < 0.001). Only reoperations were statistically different between the groups (P < 0.001). CONCLUSIONS: Long-term (> 10 years) bowel function of ARM patients is good in this study. Defecation problems have negative impacts on QoL and mainly affects their psycho-social health. Primary anorectoplasty is extremely important. Reoperations, which are most commonly seen in recto-urethral fistula recurrence, adversely affect the outcome.

Correlation between congenital pelvic floor muscle development assessed by magnetic resonance imaging and postoperative defecation.

OBJECTIVE: Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation. METHODS: We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test. RESULTS: We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant. CONCLUSION: A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.

Comparison of postoperative urinary complications in laparoscopic-assisted anorectoplasty versus posterior sagittal anorectoplasty for anorectal malformation with rectourethral fistula.

BACKGROUND: Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) in terms of urinary complications. METHODS: Between 2001 and 2022, 45 patients were treated with LAARP or PSARP. The rectourethral fistula and inflow angle between the fistula and rectum was confirmed by preoperative colonography. The incidence of urinary complications and treatment were compared between the two groups. RESULTS: Four patients (14%) had remnant fistula and five patients (17%) had neurogenic bladder dysfunction in LAARP group, while three patients (18%) had urethral injury in PSARP group. All patients with remnant fistula were asymptomatic and followed without treatment. The incidence of remnant fistula improved between earlier decade and later decade. In all cases with urethral injury, suture repair was performed and no postoperative leakage was noted. All five patients with neurogenic bladder dysfunction had spine abnormalities that required clean intermittent catheterization (CIC) and two were free from CIC finally. CONCLUSIONS: It is important to check inflow angle preoperatively to prevent remnant fistula. For PSARP, meticulous dissection is required when separating fistula from urethra because they create common wall. The most contributing factor to neurogenic bladder is sacral anomalies. Preoperative evaluation and postoperative urinary drainage are important.

[A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association]. / Ein seltener Fall: Kasabach-Merrit-Syndrom bei VACTERL-Assoziation.

The Kasabach-Merrit syndrome is characterized as the association of a vascular tumor, typically a caposiform hemangioendothelioma and rarely a tufted hemangioma, and a severe consumptive coagulopathy with potentially life-threatening thrombocytopenia. The severe coagulopathy with increased bleeding tendency must be considered before invasive procedures and often requires repeated platelet concentrate substitutions. We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimus was successful in terms of tumor reduction and especially reduction of platelet consumption.

Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report.

BACKGROUND The VACTEREL association is an acronym that includes vertebral malformations (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TE), renal defects (R), and limb malformations (L). The aortic arch is the section between the ascending aorta and the descending aorta, where some variants have been described, such as the right aortic arch and bovine aortic arch, among others. A rare presentation in the Natsis classification is the "type X" where a bovine aortic arch and anomalous origin of the left vertebral artery are present. Several structural cardiac malformations have been described in the VACTEREL association. Still, there is no bovine arch or an anomalous left vertebral artery. CASE REPORT Our patient was a 3-year-old boy with a diagnosis of VACTEREL association (type III esophageal atresia, congenital hip dislocation, scoliosis, bilateral clubfoot, and grade IV biliary ureteral reflux). Echocardiographic findings showed changes in the aortic arch, and angiotomography and magnetic resonance angiography showed a bovine aortic arch and an anomalous left vertebral artery. At the time of diagnosis, there were no clinical manifestations or complications due to the anomalous origin of the left vertebral artery. CONCLUSIONS This is the first description of a bovine type X arch according to the Natsis classification in a VACTEREL association. In general, knowledge of the anatomical variants of the aortic arch and the origin and course of the vertebral arteries is of great clinical and interventional importance, mainly because of the risk of cerebral ischemia.

SALL4 deletion and kidney and cardiac defects associated with VACTERL association.

Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies. SALL4 encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning SALL4 who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of SALL4 deletion, in addition to a previously reported patient with VACTERL association phenotype and SALL4 nonsense mutation, further supports the notion that SALL4 haploinsufficiency can lead to VACTERL association.

Infantile anogenital digitate keratoses.

Infantile anogenital digitate keratoses (IADK) represent a distinct and under-recognized pediatric condition of the perianal area of infants, significantly more frequent in males than females. The average age of onset is 3.2 months, and it is self-remitting by 2 years of age. Perianal spiny keratoses resistant to usual topical therapies are the hallmark of IADK. We present a series of three cases of IADK seen at the dermatology clinic of the CHU Sainte-Justine to raise awareness on this pediatric condition, and to prevent invasive workup.

Functional Outcomes of Patients Who Underwent Anorectal Malformation Repair Using MRI Guidance.

BACKGROUND: Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes. METHODS: A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used. RESULTS: Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75). CONCLUSIONS: Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population. LEVEL OF EVIDENCE: Level III.

Bowel function and features of bowel dysfunction in preschool children with anorectal malformation type rectoperineal and rectovestibular fistula.

Anorectal malformations (ARMs) of the rectoperineal and rectovestibular fistula type (RPF/RVF) generally have a good prognosis but may be accompanied by bowel dysfunction, especially constipation. Bowel dysfunction in preschoolers may persist into adolescence and adulthood, exerting a negative effect on their quality of life. This study was designed to evaluate bowel function and identify the features of bowel dysfunction in preschoolers with RPF/RVF across type and sex differences. A total of 159 preschoolers with RPF/RVF (male RPF group, n = 95; female RPF group, n = 26; RVF, n = 38) and 128 normal control preschoolers (control group, n = 128; female control group, n = 35), according to the bowel function score (BFS) obtained through a questionnaire survey, the BFS items in the questionnaire, and the clinical characteristics of patients were compared among groups. The rates of bowel dysfunction (BFS < 17) were 27.2% and 50.0% in the RPF and RVF groups, respectively. Normal rates of BFS items, namely, ability to hold back defecation, feels/reports of the urge to defecate, frequency of defecation, and constipation, in the RPF and RVF groups were significantly lower than those in the control and female control groups (all p < 0.05). After subgroup analysis among the male RPF, female RPF, and RVF groups, higher rates of normal bowel function and ability to hold back defecation were found in the male RPF group than in the female RPF and RVF groups (p < 0.05). Normal rates of feels/reports of the urge to defecate were higher in the male and female RPF groups than in the RVF group (all p < 0.05). The rate of never soiling in the male RPF group was significantly higher than that in the RVF group (p < 0.05).  Conclusions: In patients with RPF/RVF, bowel dysfunction is still prevalent, characterized by inadequate ability to hold back defecation, inability to feel/report the urge to defecate, soil, less frequent defecation, and constipation. However, male RPF patients had better overall bowel function than female RPF or RVF patients, including more adequate ability to hold back defecation and feels/reports of the urge to defecate and slighter soiling, which may be linked to early age at surgery, low occurrences of low sacral ratio, and tethered cord in male RPF.  Trial registration: This study was retrospectively registered in ClinicalTrials.gov on 09/01/2023 (NCT05716230). What is Known: • Rectoperineal and rectovestibular fistula (RPF/RVF) of the anorectal malformation (ARM) type has a good prognosis but may cause bowel dysfunction, especially constipation. • Bowel dysfunction at preschool age may lead to social and psychological disorders that undermine the quality of life in adolescence and adulthood. What is New: • Bowel function in preschoolers with RPF/RVF was deeply evaluated in a relatively large number of patients and normal control children. • Features of bowel dysfunction in RPF/RVF preschoolers across type and gender differences were identified in this study.

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country.

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.

Posterior Sagittal Approach Provides Optimal Exposure for Urethral Reconstruction in Children With a History of Anorectal Malformations.

OBJECTIVE: To present a unique series of children with previously repaired anorectal malformations (ARM) with subsequent urethral pathology repaired via a posterior sagittal exposure and highlight the associated technical advantages. METHODS: Using a retrospective review of all procedures performed in our pediatric colorectal and pelvic reconstruction program from January 2020 through December 2022, we compiled a case series of patients with a history of ARM and prior posterior sagittal anorectoplasty (PSARP) who had urethral pathology and concurrent indication for redo-PSARP. Clinical features, operative details, and postoperative outcomes were collected. RESULTS: Six male patients presented at a median age of 4.3 years, all born with an ARM of recto-urinary fistula type, of which 3 were recto-prostatic, 1 recto-bladder-neck, and 2 unknown type. In addition to redo-PSARP, 2 underwent remnant of the original fistula excision and 4 had urethral stricture repair. One required post-operative Heineke-Mikulicz anoplasty. Patients underwent cystoscopy 4-6 weeks post-reconstruction, and none showed urethral stricture requiring treatment. Post-procedurally, 5 patients were able to void urethrally and 1 required additional bladder augmentation/Mitrofanoff. CONCLUSION: Redo-PSARP completely mobilizes the rectum, thereby providing excellent exposure to the posterior urethra for repair. This approach also allows the option of a rectal flap for augmented urethroplasty as well as harvest of an ischiorectal fat pad for interposition.

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

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.

Anoplasty and rectovaginal fistula repair in a gilt with atresia ani: A case report.

A 2-year-old female Vietnamese potbellied pig was referred to the Large Animal Teaching Hospital at the Ontario Veterinary College for anoplasty and rectovaginal fistula repair. The presence of atresia ani and rectovaginal fistula had been previously diagnosed. Contrast radiography was used to confirm the diagnosis and determine the position of the fistula and terminal rectum. Under general anesthesia, the urethra was catheterized. An incision was made at the anatomic location of the anus, the rectovaginal fistula was isolated through deep dissection, and a Penrose drain was placed around it for caudal retraction. Transvaginal catheter placement through the fistula and into the rectum assisted with anatomic location. Once the urogenital and gastrointestinal tracts were clearly identified, the fistula was transected as close to the vaginal cavity as possible. The vaginal defect was sutured, and the fistula tract was mobilized 90° and sutured to the skin, creating the anal canal. Postoperative complications included constipation and cystitis. The gilt passed feces 5 d after surgery and was discharged on Day 11 of hospitalization. Normal urination and defecation were observed at the time, and fecal incontinence was resolved. Six months after surgical intervention, the gilt remained continent and no complications were reported. Key clinical message: Anoplasty and rectovaginal fistula repair were completed successfully in a gilt. Preservation of the fistula and its use during anal reconstruction may provide an internal anal sphincter and may be associated with improved continence.

Anoplastie et réparation de la fistule recto-vaginale chez une cochette avec atrésie anale : rapport de cas. Une femelle cochon vietnamien de 2 ans a été référée au Large Animal Teaching Hospital du Ontario Veterinary College pour une anoplastie et réparation d'une fistule recto-vaginale. La présence d'une atrésie anale et d'une fistule recto-vaginale avait déjà été diagnostiquée. Une radiographie de contraste a été utilisée pour confirmer le diagnostic et déterminer la position de la fistule et du rectum terminal. Sous anesthésie générale, l'urètre a été cathétérisé. Une incision a été faite à l'emplacement anatomique de l'anus, la fistule recto-vaginale a été isolée par dissection profonde et un drain de Penrose a été placé autour d'elle pour la rétraction caudale. Le placement d'un cathéter transvaginal à travers la fistule et dans le rectum a aidé avec la localisation anatomique. Une fois les voies urogénitale et gastro-intestinale clairement identifiées, la fistule a été sectionnée aussi près que possible de la cavité vaginale. Le défaut vaginal a été suturé et le trajet de la fistule a été mobilisé à 90° et suturé à la peau, créant le canal anal. Les complications postopératoires incluaient la constipation et la cystite. La cochette a expulsé des matières fécales 5 jours après la chirurgie et a obtenu son congé le 11e jour d'hospitalisation. Une miction et une défécation normales ont été observées à ce moment-là, et l'incontinence fécale a été résolue. Six mois après l'intervention chirurgicale, la cochette présentait encore de la continence urinaire et aucune complication n'a été signalée.Message clinique clé :L'anoplastie et la réparation de la fistule recto-vaginale ont été réalisées avec succès chez une cochette. La préservation de la fistule et son utilisation lors de la reconstruction anale peuvent fournir un sphincter anal interne et peuvent être associées à une meilleure continence.(Traduit par Dr Serge Messier).

Laparoscopic-assisted anorectoplasty for anorectal malformation with rectobulbar fistula: A two-center comparative study with posterior sagittal anorectoplasty.

Due to the controversy on the feasibility of laparoscopic-assisted anorectoplasty (LAARP) for the treatment of the anorectal malformation (ARM) with rectobulbar fistula (RBF), this study aimed to compare the outcomes of LAARP and posterior sagittal anorectoplasty (PSARP) for ARM with RBF. Demographic data, postoperative complications, and bowel function of RBF patients who underwent LAARP and PSARP at 2 medical centers from 2016-2018 were retrospectively reviewed. Eighty-eight children with RBF were enrolled, including 43 in the LAARP group and 45 in the PSARP group. There were no significant differences in the sacral ratio (P = .222) or sacral agenesis (P = .374). Thirty-seven and 38 patients in the LAARP and PSARP groups were followed up for a median of 4.14 years. The postoperative complications were comparable between the groups (P = .624), with no cases of urethral diverticulum. The urination of all cases was normal and no evidence of cyst formation was found on MCU or MRI during the follow-up period. The incidence of rectal prolapse was similar between the 2 groups (9.3% vs 17.8%, P = .247). The groups had equivalent Bowel Function Score (15.29 ± 2.36 vs 15.58 ± 2.88, P = .645), but the LAARP group had better voluntary bowel movement (94.6% vs 84.2%, P = .148) by Krickenbeck classification. The intermediate-term outcomes of LAARP show that the urethral diverticulum was rare by the intraluminal incision of the fistular and the bowel function was comparable to that of PSARP in ARM with rectobulbar fistula. However, LAARP was associated with smaller perineal wounds.

Potential benefits of routine cystoscopy and vaginoscopy prior to reconstructive surgery in patients with an anorectal malformation.

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.

Erudition from primary posterior sagittal anorectoplasty for anorectal malformations over two decades.

PURPOSE: Perioperative and early post-operative outcomes of Primary Posterior sagittal anorectoplasty (P-PSARP) were evaluated. METHOD: Retrospective analysis of cases who underwent P-PSARP from 2004 to 2019 was done. Perioperative care, management, complications, voluntary bowel movement, soiling and constipation, graded by Krickenbeck criteria were studied. RESULTS: One hundred fifty six patients (134 girls) underwent P-PSARP at median age of 5 months (3 months to 14 years) in girls and 5(1-10) days in 21 boys. One male cloaca was operated at 5 months age. Of 20 boys, 5, 8, 4, 3 had rectobulbar urethral fistula, rectoprostatic urethral fistula, bladder neck fistula and male cloaca. Girls had vestibular fistula, rectovaginal fistula, vulval anus, anterior ectopic anus, pouch perineal fistulae and posterior anus with H type fistula in 114, 7, 6, 5, 1 and 1. Complications included wound infection, excoriation, oedema, mucosal prolapse, anal stricture, anal retraction and mortality in 6, 4, 5, 4, 4, 1 and 1, respectively. 35/155(12 neonates) required postoperative dilatations for 5(1-12) months. At follow-up, 96/114(84.2%) had voluntary bowel movements. 46/155 (29.7%) and 9/155 had constipation and soiling. 32:14:0 had grade 1:2:3 constipation, treated with diet (grade 1) and laxatives (grade 2) respectively. 4:3:2 had grade 1:2:3 soiling for initial 3 months, treated with bowel management programme. CONCLUSION: P-PSARP is feasible, subject to proper case selection and good perioperative care, once learning curve is achieved.