Spectrum Of Anorectal Malformations Research Articles

Correlation of the Position of the Anal Dimple with the Caudal Termination of the Striated Muscle Complex in Patients with Anorectal Malformations.

Background:In children with anorectal malformations (ARM), the vertical fibres of the striated muscle complex (SMC) are believed to be located within the limits of the anal dimple (AD).Methods:Forty five cases of ARM underwent posterior sagittal anorectoplasty (PSARP), median age 8.5 months. During PSARP the anterior, posterior limits and midpoint of the AD and SMC were marked. The location of AD was correlated with SMC.Results:A ‘well developed’ AD and SMC was seen in 80 % and 86.7 % patients respectively. The mean width of the AD and SMC was more in females than in males (20.96 vs. 18.98 mm and 14.24mm vs. 13.45mm respectively). In 36 cases (80 %), across the spectrum of ARM, the SMC was posterior in relation to the AD. In 7 cases (15.5 %) it correlated in position with the AD and in 2 cases (4.44 %), it was anterior to the AD.Conclusions:In the majority of cases AD and SMC were ‘well developed’ and the location of the SMC does not correlate with that of the AD. This has significant practical value in the important step of optimizing the placement of the rectum through the center of the SMC during repair.

Anorectal malformation with long perineal fistula: one of a special type

The anorectal malformation with long perineal fistula is a rare anomaly in the spectrum of anorectal malformations. Aim of the study is to describe the series of patients with anorectal malformation with long perineal fistula and compare the outcome with patient with standard perineal fistula. From March 2012 to January 2019, 7 patients who suffered from anorectal malformation with long perineal fistula were retrospectively reviewed. Three were operated on primarily by our department, and 4 cases were re-operated after a perineal anoplasty repair performed elsewhere. Four were operated by laparoscopy assisted anorectoplasty, and 3 cases were repaired by posterior sagittal anorectoplasty. The follow-up outcomes were compared with 71 cases of normal perineal fistula (NPF) in the same period. 7 cases have been followed up for 0.5–4 years (M = 2.57 ± 1.26) after definitive surgery. Their bowel function score was lower than normal perineal fistula (SPF = 12, range: 5–18; NPF = 18.5, range: 18–20). Four cases underwent anorectomanometry. The incidence of rectoanal inhibitory reflex was lower in the special type group. (p = 0.14). Three cases of contrast enema using barium: 2 cases of colorectal dilatation and thickening changes, 1 case showed no obvious abnormalities. Anorectal perineal fistula should be examined by distal colostogram at preoperation. This should be altered in: When suspecting a case of anorectal malformation type long perineal fistula a preoperative contrast enema could give insight of the anatomy befor performing a anoplasty.

Laparoscopic Super-Low Anterior Resection for Congenital Rectal Stenosis Using Swenson's Technique

Abstract Background: Congenital rectal stenosis (CRS) is an extremely rare disorder that is classified into the spectrum of anorectal malformations (ARMs).1 Ladd and Gross classified CRS as a type ...

STUDY OF CASES OF ARM IN RURAL POPULATION

introduction
 Anorectal malformations (ARMs) comprise a spectrum of birth defects in newborn male and female children which include rectum, anal canal, genitalia and urinary tract. ARMs incidence ranging 1:2000-5000 live birth.1,2The spectrum of ARM varies from mild anterior displacement of anus to complex anomalies such as cloacal exstrophy.[4] The main goal of management is correct diagnosis and surgery so as to achieve good anatomic and functional outcome so that a child can lead his or her life as normal as possible.
 MATERIAL AND METHODS
 All children of pediatric age group from 0 to 15 years admitted in surgical wards and/or pediatric wad of Index Medical College, Hospital and Research Centre, Indore with diagnosis of Anorectal Malformations who will undergo all stage of treatment and follow-up. This was prospective and observational study.
 DISCUSSION
 The management of infants with ARM continues to be a challenge to pediatric surgeons, worldwide. For better results, precise anatomical reconstruction and careful preservation of Structure is required. ARM being a complex group of disorders, is not easy to diagnose at primary healthcare level. The social awareness about the disease is low and it also varies with Sex of child, place of living and education of parents.
 CONCLUSION Anorectal malformation is a surgically treatable entity. Early restorative surgery leads to good outcome. Time being the essence, awareness about the condition, hospital delivery and detailed neonatal examination is advisable. In developing countries like India, where illiteracy and poverty are prevalent and where there is neglect of female child, early diagnosis and referral to specialty centres for surgery is always commendable in terms of social acceptance and a sound psyche.

The rare case of a true rectovaginal fistula and its repair

Abstract Background Within the spectrum of anorectal malformations, congenital rectovaginal fistulae are a rare but treatable entity. These less common variates can be treated much in the same fashion as other malformations such as imperforate anus or rectovestibular fistulae are repaired. Summary In the case presented here, diagnosis of a rectovaginal fistula was delayed despite repeated examinations until the patient reached a size where the fistula was easily identifiable. The patient had no other anorectal malformation and was otherwise in good health. Her repair was done as a same day surgery and the patient recovered without complication. Conclusion A rectovaginal fistula is a highly unusual clinical entity but one amenable to repair in the same fashion as other similar malformations.

Complete VACTERL evaluation is needed in newborns with rectoperineal fistula

PurposeGiven that a rectoperineal fistula is developmentally the most mature lesion in the spectrum of anorectal malformations, it is not clear whether it merits a complete VACTERL evaluation. We sought to determine if the same evaluation is required to rule out associated anomalies in newborns with rectoperineal fistula as those with more complex anorectal malformations. MethodsWe performed a retrospective review of the pediatric colorectal center database at our tertiary care children’s hospital from 2000 to 2012. Patients with anorectal malformations were categorized as rectoperineal fistula or “other” using the Krickenbeck classification. Records were reviewed to identify associated anomalies. Results308 patients (156 males) were treated at our institution during the time period (rectoperineal fistula=102). Thirty-five (34%) patients with a perineal fistula had at least one associated anomaly. The most common anomalies were cardiac lesions (29% excluding PFO and PDA), genitourinary (20.6%), and malformations of the spine (15.7%). The overall occurrence of anomalies was lower than the “other” group. ConclusionOur review demonstrates that newborns with a rectoperineal fistula frequently have associated anomalies and should undergo an evaluation similar to more complex lesions. These findings illustrate the importance of a structured approach to the evaluation of even the most straightforward lesions.

Modified transanal repair of congenital H-type rectovestibular fistula: A technique to avoid recurrence

Congenital H-type rectovestibular fistulas are rare in the spectrum of anorectal malformations. Repair is associated with recurrence rates of up to 30%, using perineal repair, vestibuloanal pull-through or anterior anorectoplasty. The rarity of the malformation has limited experience with the surgical approach; hence, the rate of wound breakdown. We describe the use of a modification of the transanal approach for the repair in a 7-month-old female patient.

Rectal atresia and stenosis: unique anorectal malformations

IntroductionRectal atresia/stenosis is a rare disorder in the spectrum of anorectal malformations and is particularly associated with a presacral mass. These patients are born with a normal anal canal but have a stricture or complete atresia located a few centimeters proximal to the dentate line. We present a surgical technique for the management of these patients, as well as their unique clinical concerns and outcomes. MethodsWe reviewed the records of 14 patients with rectal atresia and 3 with rectal stenosis. We describe a novel technique that we have developed for the preservation of the anterior dentate line that was performed in the last 13 patients. ResultsRectal atresia/stenosis was associated with a presacral mass in 5 patients (29%). Definitive repair was completed using a circular rectorectal anastomosis in the first 4 patients and an anterior dentate line sparing procedure in the last 13. All patients older than 3 years have demonstrated the ability to have voluntary bowel movements. ConclusionWith the largest reported series of rectal atresia/stenosis, we have demonstrated a safe and effective technique for repair. Preoperative evaluation must be thorough because a significant number of these patients will have an associated presacral mass.

Management of H-type rectovestibular and rectovaginal fistulas

Introduction H-type rectovestibular or rectovaginal fistulas are rare entities in the spectrum of anorectal malformations seen in North America. Management options described in the literature have included perineal repair, anterior perineal anorectoplasty, vestibuloanal pull-through, and limited or formal posterior sagittal anorectoplasty, with a reported recurrence rate of 5% to 30%. We describe our approach and outcome in the management of these patients. Methods In a series of 1170 females with anorectal malformation, we cared for 8 patients who had an H-type rectovestibular or rectovaginal fistula and reviewed their clinical presentation, diagnosis, operative technique, and postoperative course. Results The patients' presenting symptoms included passage of stool per vagina (6), constipation (3), labial abscess (1), and recurrent urinary tract infection (1). There was associated anorectal stenosis in 3 patients. The remaining 5 patients had normal anal openings. Endoscopy was not helpful in locating the fistulas, but the fistulas were all demonstrated on direct inspection under anesthesia. The fistula was located in the vestibule (4), vagina (3), or labia (1). One patient had an associated presacral mass. Two patients had been operated on twice previously using a perineal repair and a protective colostomy and presented with third recurrences. In 5 cases, a posterior sagittal approach was used, placing sutures circumferentially around the fistulous opening on the rectal side, ligating the fistula, and pulling down a normal segment of rectum to be placed in front of the repaired vaginal wall. In our last 3 cases, we performed a transanal mobilization of the anterior rectal wall, leaving the perineal body intact. After our repairs, the patients have been followed up for 3 months to 15 years with a median of 15 months, and we have seen no recurrences. Conclusions In addition to vaginal passage of stool, an H-type fistula should be suspected when there is a labial abscess in an infant, and an associated anal stenosis or presacral mass must be checked for. Direct inspection is the key, with a careful look in the vestibule, because endoscopy may miss the fistula. The essential technical point for repair is to get healthy anterior rectal wall to cover the area of fistula on the posterior vagina. A transanal approach, leaving the perineal body intact, is an excellent option for this repair.

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca

The spectrum of anorectal malformations (ARM) comprises anal stenosis, ectopic anus, recto-urogenital fistula, persistent cloaca, multisystem VACTERL (VATER associations including cardiac and limb anomalies) associations, and exstrophy of the cloaca (CE). The latter also constitutes the most severe form of the bladder exstrophy epispadias complex. Since recent data revealed that fibroblast growth factor 10 (fgf-10) invalidation in mice resulted in a genetically reproducible urorectal defect, we considered FGF10 a suitable candidate gene for ARM and CE, as the protein seems to be involved in the development of this primary developmental field. A total of 20 patients (ten with ARM and VACTERL association, respectively, and ten with CE) were analysed for genomic mutations in the coding regions and exon-intron boundaries of FGF10. Aside from a common FGF10 variant no deviation from the wild-type sequence could be detected and data obtained is not supportive of FGF10 as a genetic cause of ARMs or CE in the patients investigated. Nonetheless, mutations in possibly further upstream located promoter regions and/or unknown regulatory sequences or non-coding regions cannot be excluded. Furthermore, it cannot be ruled out that other genes involved in the signalling pathway of FGF10 may contribute to the formation of these congenital malformations.

The spectrum of anorectal malformations in Africa

Anorectal malformations (ARM) remain a significant birth defect with geographic variation in incidence, individual phenotypes and regional geographic subtypes. Although early studies indicated a low incidence in Black patients, there is a great paucity of knowledge as to the types, frequency and incidence of ARMs encountered in the African continent and their associated anomalies. Current evidence suggests a significant clinical load. This study set out to evaluate ARM in Southern and other parts of Africa to define the clinical load of ARM. We retrospectively collected data on 1,401 ARM patients from six South African Paediatric Surgical units plus representative samples from five other African countries from West, Central and Southern Africa. Data included ethnic group, age, gender as well as the anatomical pathology, classification and presence or absence of associated anomalies. ARM lesions classified by the Wingspread classification plus an analysis of fistula position was carried out in evaluable cases for purposes of comparison. South African centres reported a higher prevalence of cloacae and vestibular fistulae, whereas rectovaginal, recto prostatic and anorectal malformation without fistula were more prevalent in the Northern African group. 76% of 1,401 patients were ethnically Black African [gender ratio = 2 (vs gender ratio 1.38 overall)] and 49.8% were "low" lesions (Wingspread classification). High or intermediate lesions were mostly males (72%). Anal stenosis was most prevalent in black males and non-Black females. Fistulae were identified in 95% with 682 (52%) being low (perineal/covered anus/vestibular) fistulae. Perineal fistulae had a male predilection (n = 260; 20%), whereas vestibular fistulas (n = 416; 32%) was strikingly frequent in black females (55%). Of the remainder, 15 fistulae were rectovesical (1.2%), 544 recto-urethral or prostatic (42%), 16 recto-vaginal (1.2%). In addition, there were 43 cloacal lesions (3.3%). Isolated rare ARM anomalies included "Pouch" colon (2) and H-type fistula (2). Isolated lesions occurred in 81% but 163 associated anomalies were identified in 114 patients. These included chromosomal lesions (10), genito-urinary anomalies (50), genital (16), cardiac (31), skeletal anomalies (33), gastro-intestinal malformations (28). Other anomalies included CNS anomalies (14), anterior abdominal wall defects (2) and facial (8) abnormalities and neuroblastoma (1). The ARM is not uncommon in Black African populations and constitutes a significant clinical load to surgical practice in Africa. Ethnic differences appear to exist and vestibular fistulae predominate in black females. Cloaca (3.3%) did appear to be more prevalent. Isolated lesions are frequent but the types of associated anomalies appear similar to other series except chromosomal syndromes. This study illustrates the need for more objective data from developing countries to assess geographical differences.

Anorectal Malformations: Practical Tips

The spectrum of anorectal malformations (ARM) ranges from non-complex low malformation with well developed rectum, anal canal, sphincters and sensory receptors to the complex high malformation with variable development of sphincters and sensory receptors associated with other anomalies. In addition to promptly detect the presence of ARM and associated life threatening defects, the clinician attending the newborn with absence of anal orifice is entrusted with the task of completing the primary evaluation process to decide whether the defect is low which can be corrected with relatively simple procedures like anoplasty or the defect is high necessitating colostomy for relief of obstruction and definitive surgery later. In majority of cases clinical evaluation can establish the working diagnosis to decide the management protocol. In clinically indeterminate cases invertogram can pin point the diagnosis. In cases with doubtful diagnosis, blind perineal exploration is absolutely contraindicated and colostomy is performed leaving the sphincters intact for subsequent work up and definite surgery.

Management of a congenital H-type anorectal fistula by anterior sagittal anorectovaginoplasty (ASARVP)

Dear Editor: Congenital H-type fistula between the anorectum and the genital tract without any variety of anal atresia is a very rare entity in the spectrum of anorectal malformations. The incidence of congenital cases of H-type fistulae in girls ranges from 3.2 to 14%. These malformations—in recent literature also termed as “double termination” of the alimentary tract—have been reported in Europe only sporadically, but in Asia, they are more common. According to the level of fistulous communication to the genital tract, they could divide into high-, intermediateand lowtype forms. High-type forms contain all cases in which the fistula lies between the rectum and the vagina (=rectovaginal fistula with normal anal canal). Intermediate-type forms describe all fistulas between rectum and vestibule (=rectovestibular fistula with normal anal canal). Low-type forms (=perianal canal) include all cases in which the fistula took its course between the anal canal and the vestibule of the vagina (=anovestibular fistula with normal anal canal). The perianal canal is the most common malformation among all types of double termination of alimentary tracts in girls. Various surgical techniques with or without protective colostomy have been described in literature but until today, there is no consensus regarding the operative technique. A 60-day-old girl with a left labium abscess was brought to our department. In physical examination, the anus was in normal localisation, was age-related in size and had a normal sphincter tone. A left labium abscess and a fistula were found between the left labium/vulva and the anus (anovestibular fistula = low-type form). Operative treatment was done in three sessions: First, a protective colostomy was performed for the management of the local infection, and the abscess was drained. Second, an anterior sagittal anorectovaginoplasty (ASARVP) was done 3 months later. Intraoperatively, the whole fistulous tract was excised, and the surrounding tissue was repaired in different layers. In the third step, the colostomy was closed. The second case described a 90-day-old girl with a passage of stool through the vestibulum as well as through the normal anal passage. She had been swelling and had tenderness on her left vulvar region for 2 weeks. Physical examination showed a normal anus in localisation and size and had also normal sphincter tone. A vestibular opening was found in the middle just below of the hymen, without any abscess in this region. The radiological examination showed a fistula between the left labium and the rectum (=intermediate type form). Reconstruction of this intermediate type was done by ASARVP as well, without a protective colostomy. Up to now, there were no relapses of fistula or abscess in these two cases. Since the first description of a recto-vestibular fistula with a normal anus by Bryndorf and Madsen, about 50 girls with H-type anorectal malformations have been described in the literature. Large series have been reported from Asian countries. This suggested that these anomalies are more common in individuals of Asian origin. In all of these cases, a fistula connected the rectum or the anus with the vestibulum or the vagina. The embryology of H-type fistula remains unclear and controversial. In our both cases, the abscess and the fistula were localized on the left side. Recently, van der Putte suggested that an interruption of the Int J Colorectal Dis (2006) 21:728–729 DOI 10.1007/s00384-006-0156-z

Complete familial currarino triad in association with hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations

Currarino syndrome, a rare hereditary condition, is defined as a partial sacral agenesis associated with a presacral mass and anorectal malformation. The authors present two siblings with complete Currarino triad and their mother with incomplete triad. The complete Currarino triad in the older sibling was associated with Hirschsprung's disease as the second reported case in the literature. Anorectal malformations, whether suspected of Currarino syndrome or not, should be examined with lumbosacral magnetic resonance imaging.

Clarification of the processes that lead to anorectal malformations in the ETU-induced rat model of imperforate anus

Background: Ethylenethiourea (ETU) administered to timed-pregnant rats can induce anorectal malformations (ARMs) in about 80% of rat fetuses, thus providing an ideal animal model to study the embryogenesis of ARMs. The current study was undertaken to investigate the embryogenetic events that may be responsible for the development of ARMs in rats. Methods: Time-mated pregnant rats were divided randomly into control and experimental groups. The experimental rats received 1% ETU (125 mg/kg) by gavage on gestational day 10, and control rats received only the vehicle. Their embryos were harvested by cesarean section on gestational days 13, 14, 15, and 16. They were fixed and embedded in paraffin and serially sectioned in either the sagittal or transverse plane. The sections were stained with H&E, examined, and photographed. The comparative morphogenesis of the hindgut, cloaca, and tailgut of age-matched embryos was studied. Results: The key abnormalities in the experimental embryos were: (1) maldevelopment of cloaca and urorectal septum with no sign of the fusion between the urorectal septum and the cloacal membrane, (2) delay of tailgut regression, (3) abnormal and massive apoptotic cell death involving the posterior cloacal wall, and (4) underdevelopment of the dorsal aspect of the cloaca and its membrane. The type of ARM that was developing was discernible by gestational day 15 and 16. Conclusions: ARMs induced by ETU in rat embryos seem to be caused by the cumulative effect of aberrations in the development of several components of the hindgut and cloaca. Variation in the extent of maldevelopment of these structures may result in a spectrum of ARMs. J Pediatr Surg 37:1305-1312. Copyright 2002, Elsevier Science (USA). All rights reserved.