Low-type Anorectal Malformation Research Articles

Unraveling Unique Prevalence Patterns: Localized Insights into Associated Cardiac Anomalies in Anorectal Malformation Populations

Background: Anorectal malformation (ARM) is a congenital condition affecting the development of the rectum and anus. Brunei exhibits a notably higher incidence of ARM compared to the global average, prompting a closer examination of associated cardiac anomalies (CAs). Methods: A retrospective observational study (2016-2022) at Brunei's tertiary care centre reviewed ARM cases, emphasizing the identification of associated CAs and their clinical impact. Results: Among 34 cases, 18% demonstrated concurrent CAs and only half of these were significant, necessitating cardiac intervention. These CAs were predominantly associated with low-type ARMs. Patent ductus arteriosus (PDA) and ventricular septal defects (VSD) were the most prevalent associated cardiac anomalies. Attributed cardiac mortality was noted in 1 case. Conclusion: Our study provides unique insights into co-occurring cardiac anomalies in Bruneian ARM cases. Deviations from global averages prompt revaluation of clinical approaches. The lower incidence of interventions suggests a distinct clinical scenario, highlighting the importance of localized studies in managing ARM cases in this specific population. The study also emphasizes the need for cautious consideration of routine echocardiograms for all ARM cases.

Prevalence and Factors Associated with Post-operative Strictures in Anorectal Malformations

Objective: Rectal strictures are a serious complication following operation for anorectal malformations (ARM). The purpose of this study was to determine the factors affecting rectal strictures following surgical treatments for ARM. Materials and Methods: Retrospective chart reviews of 204 patients with ARM who underwent surgical treatment at Siriraj Hospital between January 2003 and December 2019 were carried out. Results: Overall, the prevalence of post-operative rectal stricture was 19.6% (40/204). The higher types of ARM had higher rectal stricture rates. In low type ARM, the stricture rate following surgery for perineal fistula, vestibular fistula was 4.1% and 14.7%, respectively. Recto-bulbar urethral fistula and recto-prostatic urethral fistula had stricture rates of 19.2% and 26.7%, respectively, but in higher types, the stricture rates were above 70%. Complications such as wound infection, dehiscence, retraction, colonic necrosis and recurrent fistula all affected the post-operative stricture rate (p = 0.029, p = 0.01, p = 0.01, p = 0.042 and p = 0.002, respectively). The operation for low type ARM using local tissue flap, such as YV and cutback anoplasty, had low complications. More complicated operations were performed for higher type ARM. The higher the complication rate, the higher the post-operative rectal stricture. Routine rectal dilatation by parents seemed to prevent rectal strictures (p = 0.056). The surgical treatments for rectal strictures composed of 57.5% anoplasty, 17.5% PSARP, 15% abdo-assisted pull-through and 10% abdo-assisted PSARP. Conclusion: Post-operative rectal stricture occurred because of complications following complicated operations for high type ARM. A meticulous operative technique is crucial.

ANORECTAL MALFORMATION WITH VAGINAL AGENESIS: A CASE REPORT

Vaginal agenesis is characterised by primary amenorrhea in adolescent women and other abnormalities, such as the absence of the uterus. The incidence of vaginal agenesis or distal vaginal atresia associated with anorectal malformations is difficult to estimate. A 5-year-old patient, at birth, immediately cried, and faeces came out through an orifice in the skin under the vagina. Previously, the patient had planned for a posterior sagittal anorectoplasty (PSARP), but it was known that the patient did not have a vaginal opening at the time of surgery. The patient was diagnosed with a low-type anorectal malformation, vaginal agenesis, and a sigmoidostomy status. PSARP and vaginoplasty were performed while the patient was 7 years old. Clinical and radiographic examination in the first 3 days of age plays a role in determining the type of anorectal malformation and whether or not a colostomy is necessary. In children, MRI radiology plays a role in the preoperative examination to evaluate the size, morphology, and stage of development of the muscular sphincter. Keywords: anorectal malformations, vaginal agenesis.

Congenital fistula between the lateral buttock and postanal dermal sinus tracts with a low-type anorectal malformation

A congenital fistula between the lateral buttock and postanal dermal sinus tracts with a low-type anorectal malformation has not been previously reported. The aim of this study was to clarify the clinical characteristics and optimal surgical management of this condition. Three female patients were noted to have a pit in the left upper lateral buttock and a postanal orifice. Fistulography and magnetic resonance imaging showed no connection between the pit and orifice in the first case and a connection in the second and third cases. In the first case, surgical exploration showed firm tracts from both the lateral buttock and postanus running deep to the tip of the coccyx, with a thin cord between them. The tracts were excised, but the cord was left. In the second and third cases, the fistula was excised. The center of the sphincter muscle was placed at the postanal orifice in all three cases; thus, anal transplantation was performed. Histopathological examination showed stratified squamous epithelium of the skin in the wall of the fistula. The first case developed a pelvic abscess 22 months after surgery. Therefore, complete excision is crucial to minimize the risk of postoperative pelvic abscess.

Middle-term bowel function and quality of life in low-type anorectal malformation

BackgroundLow-type anorectal malformations (ARMs) are considered benign; however, in China, data regarding such conditions are limited. Thus, this study aimed to assess the middle-term bowel functions and quality of life (QOL) among children with low-type ARM.MethodsChildren > 3 years of age who underwent treatment for low-type ARM (vestibular fistula [VF] and perineal fistula [PF]) during 2013 and healthy children were included. The children were interviewed during their outpatient visits. The primary outcome measures were bowel function, as assessed using the Baylor Continence Scale (BCS), and QOL, as measured using the Pediatric Quality of Life Inventory (PedsQL 4.0).ResultsA total of 82 patients responded; mean patient age was 6.8 (range, 3–12) years. Mean BCS score in the control group (7.94 ± 4.74) was significantly lower than that in the VF (18.69 ± 11.11, P < 0.001) and PF (15.47 ± 6.50, P < 0.001) groups. However, there were no differences in PedsQL 4.0 scores among the groups. The patients scored the lowest for emotional function and the highest for physical function. Nearly all measurements of QOL significantly decreased with increased BCS score.ConclusionsChildren with low-type ARM can achieve good bowel control and QOL. However, although ARMs are benign, several children with this condition suffer from anal function problems that affect QOL. Redo operations, mislocated anus, and incorrect constipation treatment are the iatrogenic causes of fecal incontinence.

Primary Definitive Procedure versus Conventional Three-staged Procedure for the Management of Low-type Anorectal Malformation in Females: A Randomized Controlled Trial.

Introduction:Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen.Materials and Methods:A randomized controlled trial for girls <14 years with VF or PF was done. Random tables were used to randomize 33 children to Group I (primary procedure) and 31 to Group II (three-staged procedure). Statistical analysis was done for significance of difference (P < 0.05) in the primary outcome (wound dehiscence) and secondary outcomes (immediate and early postoperative complications).Results:Of the 64 children randomized, 54 (84%) had VF. Both groups were comparable in demography, clinical profile and age at surgery. The incidence of wound dehiscence (39.4% vs. 18.2%; P = 0.04), immediate postoperative complications (51.5% vs. 12.9%; P = 0.001), and early postoperative complications (42.4% vs. 12.9%; P = 0.01) was significantly higher in Group I as compared to Group II. Six of 13 children (46.2%) with dehiscence in Group I required a diverting colostomy to be made.Conclusions:Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence (P = 0.04), immediate (P = 0.001) and early postoperative complications (P = 0.01).

Intractable constipation in an adult with megarectosigmoid following repair of low-type anorectal malformation

A 55-year-old male patient received an anoplasty at infancy for low-type anorectal malformation, and intractable constipation was observed since. The patient presented with colitis at the emergency department. Computed tomography revealed feces with a megarectosigmoid of diameter 18 cm. Hirschsprung disease was suspected on the basis of the imaging findings. Therefore, a rectal biopsy was performed, which indicated the presence of normal ganglion cells. Bowel management was implemented with one large-volume enema to empty the huge rectal pouch daily. The patient was free of constipation and had an improved nutritional status with appropriate weight gain in 3 months. A laparoscopic Swenson pull-through was performed. The hospital course was uneventful. Enemas, loperamide, and water-soluble fibers were required for frequent soiling because of postoperative hypermotile colon. The treatments were weaned off gradually. At the latest follow-up (2 years postoperatively), the patient had regular voluntary bowel movements with complete bowel control.

Institutional Review of Cases of Reoperations After Cutback Anoplasty for Female Patients With Low-Type Anorectal Malformations

Institutional Review of Cases of Reoperations After Cutback Anoplasty for Female Patients With Low-Type Anorectal Malformations

Erratum

Erratum

Low-type anorectal malformations in the male: Extent of deviation from the norm

PurposeTo define the degree of deviation from the norm among boys with minor forms of anorectal malformations (ARM). Patients and methodsBetween March 2015 and January 2016, we studied the preoperative MRI of nine boys with low-type ARM. For comparison, we included another nine boys (control group) who underwent MRI pelvis for causes other than ARM (e.g. impalpable testes). ResultsIn boys with low-type ARM, the rectum descends forwards to touch the back of the prostate (as in the norm), but then goes downwards (with little or no backward deflection) keeping intimately attached to the bulb of the corpus spongiosum and displacing it downwards and forwards. The striated sphincter muscles do not follow the anterior displacement of the bowel termination, but remain orthotopically compacted at the normal predestined site of the anal canal. ConclusionAmong boys with low ARM, the minor abnormalities at the external anal orifice are associated with deeper anatomical aberrations in the form of anterior misplacement of the anorectum. These findings may help in understanding the disturbed act of defecation among these patients, and provide guidance to the best way of surgical correction.

胎児期に腹腔内囊胞を指摘された低位鎖肛合併segmental dilatation of colonの1例

胎児期に腹腔内囊胞を指摘された低位鎖肛合併segmental dilatation of colonの1例

Late Diagnosis of Anorectal Malformations in Children

Anorectal malformations (ARM) include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often associated with congenital anomalies of other organ systems. They appear with different clinical presentations ranging from simple imperforate anal membrane to very complex defects. They are usually detected immediately after birth or early at neonatal age, but some patients with the milder defects are diagnosed at a later age. Objectives: The aim of this study is to analyze the incidence of patients with ARM diagnosed after neonatal period, clinical features and consequences of delayed diagnosis. Materials and Methods: Since 2010 we performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations, diagnosed and treated at our clinic between 2005 and 2014. We analyzed patients’ age at the time of diagnosis, sex, type of defect, associated anomalies and postoperative functional outcome. Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The earliest diagnosed patient was a male of three months of age, while the latest diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies, presented with anal stenosis (16), perineal fistula (1) and vestibular fistula (1). Six patients (33.33%) were also diagnosed with associated anomalies. Conclusion: High incidence of delayed diagnosis of ARM highlights the importance of a careful, comprehensive clinical examination of the perineum of newborns. All patients with severe and chronic constipation must be evaluated for eventually missed diagnosis of low type anorectal malformations.

Outcome of patients with anorectal malformations after posterior sagittal anorectoplasty

Aim and purpose The aim of this study was to evaluate the outcome of patients who underwent posterior sagittal anorectoplasty (PSARP) for the treatment of low or high anorectal malformation (ARM). Patients and methods All patients who underwent standard PSARP were included in this study. Patients with mental retardation were excluded from our study. Patients were classified according to the Rintala score into four categories: poor (6–9); fair (9–11); good (12–17); and normal (18–20). We used a questionnaire introduced by Rintala. The type of anomaly was divided into two categories. We used low and high ARM definitions according to the relationship of the terminal colon to the levator muscles of the pelvic floor. The Student t-test, the Pearson v2-test, one-way analysis of variance, and the Levine test were used for data analysis using SPSS ver. 13.0. Results Sixty patients aged 3–17 years (13.63 ± 3.27 years) were included. The mean of score in patients with low-type ARM was 14.5± 2.6 and that in patients with hightype ARM was 13.19± 3.75 (P = 0.28). The mean of scores was 13.34± 3.5 among male patients and 13.94± 2.9 among female patients. There was no statistically significant difference (P = 0.46). The score was significantly higher in patients with fistula (n= 51, 13.9 ± 3.1) than in patients without fistula (n= 9, 11.8± 3.3; P= 0.03). Excluding two cases with scrotal-type fistula and rectal atresia, there was no significant difference between the two groups (P= 0.06). Conclusion There was no significant difference in the outcome after PSARP between boys and girls. There was no significant difference between low-type and high-type ARM. The mean of score was significantly higher among patients with fistula than among patients without fistula. Keywords : anoplasty, anorectal malformation, constipation, fistula, scrotal, vesical, vestibular

Management of Ano-Rectal Malformations in a Tertiary Level Children’s Hospital of Nepal

Introduction: Ano-rectal malformation (ARM) comprises a wide spectrum of diseases that involves the distal anus and rectum as well as the urinary and genital tracts. The factors that need to be considered during treatment are the type of anomaly, associated anomalies and patients general condition. The aim of this study is to analyze the types of anorectal malformations and their management in a tertiary level children’s hospital. Materials and Methods: The medical records of patients with the diagnosis of anorectal malformation managed in the hospital during a period of January 2009 to January 2014 were reviewed. Results: There were 187 cases of ARM 126 (67.37%) males and 61 (32.62%) females. High/Intermediate type was 129 (68.98%). Low ARM was 58 (31.01%). In male high type ARM with recto-urethral fistula was seen in 60 (47.61%). ARM with Rectovestibular fistula(RVF) was seen in 40 (65.5%) female. High and intermediate ARMs were managed initially with colostomy and low ARM with primary anoplasty. ARM with rectovestibular fistula in females were managed with Anterior Sagittal Anorectoplasty without colostomy. Common cloaca in female was managed initially with colostomy followed by posterior sagittal ano-recto-vagino-urethroplasty. Colostomy closure was done after adequate size of anus was achieved with anal dilation. Conclusion: The type of ARM in newborn is diagnosed by perineal examination and X-rays. Low type ARM was managed by primary surgery without colostomy. High anomaly and complex defect was treated with stage surgeries. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8190 J. Nepal Paediatr. Soc. 2013;33(3):196-200

The urological anomalies associated with anorectal malformations

Background: Urological anomalies are frequently associated with anorectal malformations which are a common source of significant morbidity.&#x0D; Objective: Is to evaluate the incidence and nature of the urological anomalies with patients of anorectal malformations (ARM).&#x0D; Patients &amp; methods: The data from 95 patients with ARM were studied from January 2009 to January 2012 in this cross-sectional study. All patients underwent sonography of urinary tract. Voiding cystourethrogram (VCUG) was done in patient with abnormal sonography &amp; to all male patients with ARM who underwent colostomy. Other imaging studies were done in selected cases.&#x0D; Results: Males significantly constitute the majority 64/95 (67.4%) of ARM cases, while females constitute 31/95 (32.6%) of patients, male to female ratio is 2:1. High type anomaly significantly constitutes the majority of the patients 79/95 (83.2%) in both genders. Urologic malformations were found in 24/95 (25.3%) patients with a significantly high frequency in males 21/64 (32.8%) while 3 of them were females 3/31 (9.7%). Urological anomalies occur more with high type ARM (27%) versus (12%) in low type ARM. Vesicoureteral reflux (VUR), renal agenesis, and hydronephrosis were the most common urologic anomalies respectively.&#x0D; Conclusions: The high incidence of associated urogenital anomalies necessitates a careful investigation of all patients with ARM and continued long term follow up of these patients is mandatory to avoid deterioration of renal function in future.

Constipation is a Major Complication after Posterior Sagittal Anorectoplasty for Anorectal Malformations in Children

To assess whether constipation or fecal incontinence is a major late complication after posterior sagittal anorectoplasty in patients with anorectal malformation (ARM). We retrospectively enrolled 188 children, 85 low-type ARM (L-ARM) and 103 high-type ARM (H-ARM), who had complete medical records of bowel habits and medication histories after posterior sagittal anorectoplasty for anorectal malformation in Mackay Memorial Hospital. Stool characteristics as well as physical and medication history were evaluated. The symptom severity (SS) scoring system was used to assess changes in bowel habits. During a mean follow-up period of 4.3 years, constipation was found to be the most common late complication in both groups of patients (64.5% in the L-ARM group and 78.6% in the H-ARM group). Compared to constipation, stool incontinence was much less frequent, with 4.7% in L-ARM and 3.9% in H-ARM. There was no significant difference in mean SS scores between the two groups. Constipation was the most common late sequela in children after correction of ARM in our study.

Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

Background/Purpose Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal anorectoplasty in low-type ARM (rectoperineal or rectovestibular), performed without colostomy. Materials and Methods Prospective collection of data regarding demographics, VACTERL (Vertebral-, Anal-, Cardiac-, Tracheo-Esophageal-, Renal-, Limb malformations) screening, perioperative measurements, surgeons, and complications. Results In 35 consecutive children (13 boys, 22 girls), repair of a low-type ARM was performed without colostomy. There were 13 boys and 10 girls with a rectoperineal and 12 girls with a rectovestibular fistula. The median age at operation was 4 months (range, 0-73 months); 34% being performed in the newborn period. Seventeen children had one or more other congenital anomaly. Preoperatively, all patients had rectal washouts with oral and rectal neomycin, and perioperative antibiotics, either 24 h (prophylaxis) or for 2 to 5 days. An anterior or posterior sagittal anorectoplasty was performed. Postoperatively, 9 children had no enteral feeding and total parenteral nutrition (TPN). All children had postoperative anal dilatations according to the Peña scheme. Two children (both with rectoperineal fistula) had a wound abscess; in the first child (with renal insufficiency), a colostomy was performed and in the other child a successful correction of the anoplasty was done. In 7 children (4 rectoperineal, 3 rectovestibular fistulae), the anus eventually healed after minor wound dehiscence. There was 1 anal stricture, after a median follow up of 14 months (range, 1-84 mo). After therapeutic antibiotics (2-5 days), 11% (2/18) had some degree of wound infection, versus 41% (7/17) after either no antibiotics or after prophylactic antibiotics (24 hours). Patients with TPN did not seem to profit with regard to wound healing and one patient experienced a central line related sepsis. At last follow-up, 12 children needed regular laxatives and/or enemas. Anal dilatations were well accepted above 6 months, and a trend was seen towards less need for laxatives when dilatations were continued longer. Conclusion Repair of a low-type ARM without colostomy, with therapeutic antibiotics, and followed by a long period of postoperative anal dilatations has low morbidity and good outcome, which does not seem to be improved with TPN.

Unexpectedly deformed anal sphincter in low-type anorectal malformation

Purpose The sphincter muscles in anorectal anomalies, which do not appear in the surgical field, cannot be described adequately. Details of the anal sphincter in low-type anorectal malformations were investigated using 3-dimensional (3D) image analysis. Patients and Methods Thirty patients (10 males and 20 females) with low-type anorectal malformation were investigated with multidetector-row helical computed tomography. An image of the anorectal part was obtained with a slice thickness of 1 mm and a reconstruction pitch of 0.5 mm. A 3D reconstruction on a personal computer was made with a volume rendering method assisted by our own software (NewVES). Results Very thin vertical fibers (VFs) were observed behind the fistula in almost half of the low-type cases. They did not wrap the distal end of the fistula. The 3D images of these sphincters were different in each case. Discussion The fistula was dislocated forward from the deformed hypoplastic sphincter. We suggest that surgical mobilization of the anorectum into the center of the hypoplastic sphincter would be difficult using the cut back or Potts methods. Conclusion The choice of surgical method should take into consideration the displaced and deformed hypoplastic anal sphincter.

Down-Regulation of SHH/BMP4 Signalling in Human Anorectal Malformations

The sonic hedgehog homologue (SHH)/bone morphogenetic protein 4 (BMP4) signalling pathway is involved in the morphogenesis of many organ systems. This study was designed to investigate the expression of SHH/BMP4 pathway components in human anorectal malformations (ARMs) and the relationship between expression of their genes and the occurrence of ARMs. Expression of SHH, GLI family zinc finger 2 (GLI2) and BMP4 mRNA in the posterior wall of the terminal rectum in 40 patients with ARMs (15 high-type and 25 low-type) and 10 normal controls was assessed by reverse transcription-polymerase chain reaction. Levels of SHH, GLI2 and BMP4 proteins were assessed by immunohistochemistry and Western blotting. The expressions of SHH, GLI2 and BMP4 were significantly lower in patients with high-type compared with those with low-type anomalies and controls. Patients with low-type ARMs differed from controls only in the expression of GLI2 mRNA. It is concluded that down-regulation of the SHH/BMP4 signalling pathway may be related to the occurrence of high-type ARMs, but the mechanism responsible for low-type ARMs remains unclear.

Delayed presentation of anorectal malformations

Aims and Objectives:Delayed management of anorectal malformation (ARM) increases the surgical and functional complications for the patient. We defined “delayed presentation of ARM” and reviewed our patients with ARM to find out the incidence and causes of delayed presentation.Materials and Methods:Patients satisfying the criteria of “delayed presentation of ARM” were involved. Detailed information of each patient including the mode of presentation, associated anomalies, plan of management and follow-up was obtained from the hospital records.Results:Between 2003 and 2006, 43 patients satisfied our criteria of “delayed presentation of ARM”. There were 21 males and 22 females. Seventeen of these males presented with low-type ARM. Eleven of them were managed by a single-stage procedure. These “delayed presenters” had to live with constipation, inadequate weight gain and parental anxiety for a greater time. Analysis of the outcomes showed more functional complications in patients who had undergone failed perineal surgery previously. In females with low ARM, the procedure of choice was anterior sagittal anorectoplasty (ASARP). Single stage surgery provides good outcomes for most of low type of ARMs. High-type ARMs in males and females were managed by a staged procedure.Conclusion:“Delayed presentation of ARM” is a major group of ARM in our setup. The management and results of their treatment are not different from those of the early presenters. The most common cause of delayed ARM is wrong advice given by the health care providers followed by inadequate treatment elsewhere. Corrective surgeries taking second attempt in perineum always produces poor outcomes.