High Anorectal Malformation Research Articles

Comparison of clinical outcomes and anorectal manometry in patients with congenital anorectal malformations treated with posterior sagittal anorectoplasty and laparoscopically assisted anorectal pull through

Purpose The objective of this study is to analyze the clinical outcomes and anorectal manometry (AM) in infants with congenital high anorectal malformations treated with posterior sagittal anorectoplasty (PSARP) and laparoscopically assisted anorectal pull through (LAARP). Materials and Methods From August 2005 to December 2008, 23 patients with congenital high anorectal malformations were randomly distributed into PSARP and LAARP groups. All of them underwent LAARP (11 cases) or PSARP (12 cases) at 2 or 3 months old. Clinical outcomes and results of anorectal manometry were compared between patients at the age of 17.4 ± 4.9 and 19.3 ± 6.2 months ( P = .4270), respectively. Results Kelly's clinical score for patients in LAARP and PSARP groups was 3.91 ± 1.14 and 3.83 ± 1.40 ( P = .8827), respectively. Anal canal resting pressure and high-pressure zone length were 29.4 ± 7.2 vs 23.4 ± 6.5 mm Hg ( P = .0479) and 14.9 ± 3.0 vs 13.9 ± 3.1 mm ( P = .4414), respectively. Rectal anal inhibitory reflex was observed in 81.8% (9/11) and 83.3% (10/12) patients ( P = 1.0000), respectively. The mean length of stay during the second hospitalization was 10.6 ± 0.9 and 14.3 ± 1.4 days ( P < .0001), respectively. Conclusions Although no significant difference can be noted in clinical scoring between both groups, the results of anorectal manometry indicate that LAARP can significantly improve anal canal resting pressure and reduce the length of stay.

Impact of spinal cord malformation on bladder function in children with anorectal malformations

Purpose Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients. Material and Methods The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation. Results In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord. Conclusion From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.

3-D MR imaging of ectopia vasa deferentia

Ectopia vasa deferentia is a complex anomaly characterized by abnormal termination of the urethral end of the vas deferens into the urinary tract due to an incompletely understood developmental error of the distal Wolffian duct. Associated anomalies of the lower gastrointestinal tract and upper urinary tract are also commonly present due to closely related embryological development. Although around 32 cases have been reported in the literature, the MR appearance of this condition has not been previously described. We report a child with high anorectal malformation who was found to have ectopia vasa deferentia, crossed fused renal ectopia and type II caudal regression syndrome on MR examination. In addition to the salient features of this entity on reconstructed MR images, the important role of 3-D MRI in establishing an unequivocal diagnosis and its potential in facilitating individually tailored management is also highlighted.

Patients with Anorectal Malformation and Hirschsprung's Disease

Dysganglionosis and aganglionosis have been frequently described in biopsies of the distal bowel in patients with anorectal malformation (ARM). They are interpreted as a developmental disorder of the anorectum. The true association of total colonic aganglionosis and anorectal malformation has not been reported before. The aim of this study was to explore the true association of anorectal malformation and Hirschsprung's disease with or without trisomy 21. A retrospective study of all patients diagnosed with anorectal malformation in our institute from 1986-2008 was performed. All patients with anorectal malformation and Hirschsprung's disease were included in the study. Rectal biopsies were taken from multiple sites, including the rectum, left, transverse, right colon and appendix. The diagnosis of aganglionosis was proven histopathologically by the absence of ganglion cells with or without acetylcholinesterase staining. Specimens were examined by at least two experienced consultant pathologists. Aganglionosis was confirmed in three patients out of 53 patients with anorectal malformation. Two had Down's syndrome. All were males and presented with high anorectal malformation without fistula. The clinical presentation was intestinal obstruction, necrotizing enterocolitis and failure to thrive. The level of aganglionosis was up to the left colon in two and total colonic with ileal involvement in one. One of the children with Down's syndrome and total colonic aganglionosis died. Another had correction of a congenital heart disease, colostomy and is awaiting definitive surgery. The third case is continent at the age of 22 years with a Malone stoma after pull-through of ARM and a subsequent Duhamel procedure. The association between ARM and intestinal dysganglionosis is not rare. We recommend not using the distal rectal pouch and parts of the fistula in the reconstruction of anorectal malformations as this may solve the constipation if the pathology is limited. In cases of aganglionosis beyond the rectal pouch and fistula, surgical intervention is needed. Delay in diagnosis may lead to morbidity or even mortality.

Abdominotransanal approach to pouch colon associated with rectal atresia

Pouch colon anomaly and high anorectal malformation are well-defined rare anomalies. The association of pouch colon anomaly with rectal atresia has previously been defined in only one case. In this study, a 2-day-old baby is presented with pouch colon anomaly without fistula and with rectal atresia. As a second case in the literature, this pathologic condition has been treated through the abdominotransanal route by using a single-stage endorectal coloanal pull-through. Being uncommon and having an important therapeutic approach, this case has been evaluated as worth presenting.

Utility of spinal MRI in children with anorectal malformation

The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion.

Long-Term Functional Evaluation of Fecal Continence After Laparoscopic-Assisted Pull-Through for High Anorectal Malformations

The use of laparoscopy while performing an abdominal dissection for the mobilization of rectovesical fistula should have an impact on anorectal function, as compared to the original posterior sagittal anorectoplasty, where muscle complex was not cut and the rectum was pulled in a way similar to the old techniques for the abdominoperineal pull-through. This necessitates a functional reevaluation. A prospective case study included 15 patients treated with a laparoscopic-assisted pull-through for high anorectal malformation. Laparoscopy was used for abdominal dissection and ligation of the fistula, with the pull-through completed by a small perineal incision centered over the external sphincter. Nine of them are now older than 3 years for fecal continence evaluation. After the approval of the Ethical Committee for Medical Research in the Department of Surgery at Ain Sams University (Cairo, Egypt) and obtaining an informed consent from the parents, they were subjected to a full clinical history and a checklist about motions and soiling to be filled in over 1 month, a barium enema to check for any dilatation, anorectal manometry to evaluate resting pressure, maximum squeezing pressure, and sphincter relaxation, and MRI (magnetic resonance imaging) to evaluate the central situation of the rectum within the sphincter and the degree of development of the sphincter. Their degree of continence was graded according to the Kelly score. Six of 9 patients are clean without any attacks of fecal soiling or incontinence, and they evacuate spontaneously but need the application of a rectal suppository for evacuation from time to time. The remaining 3 patients had variable degrees of fecal incontinence. One of them had mucosal prolapse and was excised with good cleanliness postoperatively. The remaining 2 patients are managed by medical control and they are clean with minimal soiling when stools are loose. MRI and barium enema showed a centrally placed rectum in the muscle complex without dilatation in all cases. Manometry showed a high resting pressure that decreased on straining in the 7 clean patients and low in 2. The resting pressure did not increase on squeezing and all showed weak rectoanal inhibitory reflex (RAIR). One patient developed dysurea and constipation 1 year after surgery, as diagnosed by VCUG (voiding cystourethrogram) to have a diverticulum at the site of excised fistula causing rectal and urethral obstruction treated by a transabdominal excision with a good functional result. The state of continence with the laparoscopic technique in high anorectal malformations in this study showed acceptable results but needs bigger series with longer follow-up for a proper evaluation of this technique.

Transperineal Rectovesical Fistula Ligation in Laparoscopic-Assisted Abdominoperineal Pull-Through for High Anorectal Malformations

Rectovesical fistula ligation after laparoscopic mobilization of the rectum requires either cutting of the fistula and application of endo-loop or laparoscopic endoligation or clip application. These techniques take more time and require a well-trained surgeon for performing the ligation laparoscopically. A simple technique for ligation of the fistula will be described. Over the last 5 years, laparoscopic-assisted abdominoperineal pull-through was performed in 12 cases with high anorectal malformation with rectovesical or rectoprostatic fistula. The rectovesical fistula was mobilized initially laparoscopically. The anal site was identified using muscle stimulator and incised at its center. A Hegar dilator was passed through the center of the anal sphincter to exit behind the fistula seen by laparoscopy. The tract was dilated with Hegar dilators till reaching a suitable size for rectal pull-through. A straight clamp holding the ligature was passed through the perineal site and through the dilated tract to emerge on one side of the fistula; then, the ligature was grasped through the abdomen and turned around the junction of the fistula, forming a loop and regrasped and brought outside with the clamp. The two ends of the ligature emerging from the perineal site were tied, and the knot was pushed using the finger till it reached the fistula, and then it was ligated. The fistula was cut and the mobilized rectum was pulled through the perineal incision to be sutured at the site of the future anus. Twelve patients with imperforate anus with rectovesical or rectoprostatic fistula had fistula ligation with this technique. Their ages ranged from 3 to 9 months. Ligation of the fistula was possible in all patients. Operative time ranged from 90 to 120 minutes (mean 110 minutes). The ascending urethrogram showed no residual diverticulum in all but one case, which presented with difficulty in micturation and needed to be excised. Transperineal rectovesical fistula ligation in laparoscopic-assisted abdominoperineal pull-through for high anorectal malformations is an alternative technique for fistula ligation during laparoscopy. It is simple and easy to perform with acceptable postoperative results.

Laparoscopic assisted anorectal pull through: Reformed techniques

Aim:To assess the modifications in the technique of laparoscopic assisted anorectal pull through (LAARP) practiced at our institute and analyze the post operative outcome and associated complications.Materials and Methods:A retrospective study from January 2001 to May 2009 analyzing LAARP for high anorectal malformations.Results:A total of 40 patients - 34 males and six females, in the age group of two months to six years were studied. Staged procedure was done in 39 patients; one child with recto vestibular fistula underwent single stage procedure. All the patients withstood surgery well. One patient required conversion due to problems in gaining enough length for the distal rectum in a patient with rectovesical fistula so colostomy was closed and re-located at a proximal splenic flexure. The complications were mucosal prolapse (six cases), anal stenosis (three), adhesive obstruction (two), distal rectal necrosis (one), and urethral diverticulum (one). The patients were followed up with clinical evaluation and continence scoring. The progress has been satisfactory and weight-gain is adequate.Conclusions:The advantages of the reformed techniques are as follows: Transcutaneous bladder stitch provides excellent visualization; traction over the fistula helps in dissection of the puborectalis, dividing the fistula without ligation is safe, railroading of Hegar's dilators over the suction canula creates adequate pull through channel, saves time and makes procedure simpler with reproducible comparable reports.

Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula

The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation. The patient had imperforate anus and a recto-prostatic fistula with rectal diaphragm. We managed the case by an ano-rectal pull through with excision of the diaphragm.

Bilateral Pneumothorax With Pneumomediastinum Under Anaesthesia In A Neonate

We are presenting a case of bilateral pneumothorax with pneumomediastinum in a 48 hours old infant, posted for emergency repair of high anorectal malformation under general anaesthesia. Preoperatively there is decrease in air entry on left lung and no evidence of pneumothorax. Room air saturation was 90 to 92 %. After intubation, saturation maintained, 95% to 98% with 100% O2. After 30 minutes of intubation there is acute decrease in saturation to 60%, bag was tight, and impossible to ventilate, followed by bradycardia and arrest. CPR started and baby resuscitated. We suspect barotrauma causing pneumothorax. Bilateral ICD was inserted and CXR taken, showing bilateral pneumothorax and pneumomediastinum. Saturation gradually improved to 100% with 40% FIO2. Child was extubated and CT scan thorax was planned which revealed rupture emphysematous bulla. We want to highlights here that any congenital anomalies, as ano-rectal malformation in this case may associated with multiple other defect. Chest xray may not reveal the diagnosis of emphysematous bulla. Intubation and IPPV may cause rupture of bullae and can leads to pneumothorax. So it is better to do complete investigation .which should include CT of whole body and particularly chest to rule out undiagnosed bulla in lung. Figure 1 Figure 1 (Bilateral Pneumothorax with Pneumomediastinum)

Congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of high anorectal malformation without fistula

Congenital anterior urethrocutaneous fistulas are infrequent. We report a case of a congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of a high anorectal malformation. We describe the surgical technique for the reconstruction of the urethra.

Congenital pouch colon with duplicate bladder exstrophy

Congenital pouch colon, an unusual high anorectal malformation, is rarely associated with exstrophy variants. We describe a case of congenital pouch colon associated with duplicate bladder exstrophy, never reported before in literature. The relevant literature is reviewed, and the possible embryogenesis of this complex anomaly is suggested.

Colostomy for high anorectal malformation: an evaluation of morbidity and mortality in a developing country

Colostomy is a life-saving procedure in newborns with high anorectal malformations (ARM). However, the procedure may be attended by complications, particularly in resource limited settings. This is an evaluation of the morbidity and mortality following colostomy for ARM in newborns in two paediatric teaching centres in a developing country. A retrospective review of 61 neonates who had colostomy for high ARM in 4 years is conducted. The babies were categorised into Group A (weight at presentation < 2.5 kg) and Group B (weight at presentation > 2.5 kg). There were 47 boys and 14 girls aged 18 h to 28 days (median 6 days). There were 23 babies in Group A; 18 had colostomy under local anaesthetic (LA), 5 of whom died while 5 had the procedure done under general anaesthetic (GA), 3 of whom died (mortality 8/23, 34.78%). Group B consisted of 38 babies, 18 had colostomy under GA, 3 died, while in 20 the procedure was under LA, 1 of who died (mortality 4/38, 10.5%). The difference in mortality between groups A and B was statistically insignificant (p < 0.056). There were no significant differences in outcome between the two groups when the type of anaesthesia or types of colostomy were considered. Surgical site infection was the most common 12/61, 19.7%. Of the 12 babies that died, 7 were due to overwhelming infections, 4 respiratory insufficiencies and 1 cyanotic heart disease. The overall procedure related mortality was therefore 7 (11.5%). None of the centres had adequate neonatal intensive care services during the period of this report. Morbidity and mortality following colostomy for ARM in newborns is still high in this setting, due largely to infective complications, particularly in babies < 2.5 kg.

Congenital pouch colon syndrome in a Saudi Arabian neonate

Congenital pouch colon syndrome is partial or complete replacement of the colon by a pouch-like structure and anorectal malformation. Commonly reported from northern India, we believe this is the first report of congenital pouch colon syndrome in a Saudi Arabian neonate. He was referred with an imperforate anus and diagnosed as having a high anorectal malformation. The patient underwent a sigmoid colostomy. Continued abdominal distension after the colostomy prompted sonography and computed tomography, which showed an air- and fluid-containing cystic structure in the abdomen. Exploration revealed a thick-walled cystic structure in continuity with the distal colostomy and with a blood supply mainly from the superior mesenteric artery. The ureters were dilated and tortuous and the pouch opened into the posterior vesical wall. The pouch was resected and an end colostomy fashioned. The etiopathogenesis classification and management of the congenital pouch colon syndrome are discussed.

IS-006 Laparoscopic pullthrough for high anorectal malformations : A modified cost effective technique(International Session II,Better Life for Sick Children, Better Future for Pediatric Surgery,the 45th Annual Meeting of Japanese Society of Pediatric Surgeons)

IS-006 Laparoscopic pullthrough for high anorectal malformations : A modified cost effective technique(International Session II,Better Life for Sick Children, Better Future for Pediatric Surgery,the 45th Annual Meeting of Japanese Society of Pediatric Surgeons)

Segmental dilatation of colon associated with anorectal malformation

Children with segmental dilatation of the colon suffer severe constipation and are clinically indistinguishable from Hirschsprung disease. Segmental dilatation of colon is rare in neonates. In this report, a neonate with unusual combination of segmental dilatation of the colon and high anorectal malformation is presented.

A Unique Opportunity for the Operative Treatment of High Anorectal Malformations: Laparoscopy

Georgeson et al. have reported a new operative technique for the treatment of high anorectal malformations (ARM) instead of posterior sagittal anorectoplasty (PSARP). With this new operative technique, anorectal pull-through is performed without a posterior sagittal incision with laparoscopic assistance. Herein we report our experience with laparoscopy-assisted anorectal pull-through (LAARP). The hospital and the digital video records of 4 high ARM male patients who underwent LAARP between January 2002 and June 2004 were evaluated retrospectively. The LAARP procedure was accomplished as described by Georgeson et al. Dilatation of the neoanus was started on the 15th postoperative day and was continued twice daily until the desired anal diameter had been reached. The colostomies were closed thereafter. LAARP was performed in the presence of colostomy in four patients. The first two patients are passing stools two or three times a day. A bowel management program has been initiated for the third patient, who is 4 years old. The last patient still has a colostomy. The laparoscopically excellent visualization of the pelvic musculature, especially of the pubococcygeal muscles, provides a great opportunity for accurate placement of the rectum in its anatomically precise place, without dividing the sphincteric muscle complex. Although there is not enough data regarding fecal continence after LAARP, we think that LAARP provides a unique opportunity for the operative treatment of high ARM and should be the first choice procedure for the operative treatment of high ARM.

Endoscopic Treatment of Vesicovasal and Vesicoureteral Reflux in Infants With Persisting Mesonephric Duct

We present a minimally invasive endoscopic approach for the treatment of persisting mesonephric duct in male infants. Five male infants 2 to 8 months old were referred with a history of recurrent sepsis, epididymo-orchitis and anorectal malformation that was treated elsewhere with initial colostomy. All infants had edematous unilateral testes, fever and poor feeding. Urine and blood cultures yielded the same microorganisms. All infections occurred while the infants were on regimens of prophylactic antibiotics. Comprehensive urological evaluations confirmed ipsilateral renal agenesis, sacral hypoplasia (3 patients), high anorectal malformation, and vesicovasal and vesicoureteral reflux. All 5 infants underwent urethrocystoscopy under general anesthesia. The ectopic persisting mesonephric duct entered the bladder neck and proximal prostatic urethra. Injection of 0.4 to 0.7 ml Urocol, used as a bulking agent, was administered submucosally at the opening of the persisting mesonephric duct. In 1 patient the orifice of the anomalous duct was not found during urethrocystoscopy, and ipsilateral vas ligation by titanium clips was performed. The results in the remaining 4 patients were excellent, and no further episodes of epididymitis were observed during a mean followup of 30 months. The diagnosis of persisting mesonephric duct should be considered in a male child with anorectal anomalies and recurrent epididymo-orchitis, and can be confirmed by radiological studies and cystoscopy. Endoscopic treatment of this anomaly should be considered first line therapy in these patients. However, surgical intervention is mandatory for children not responding to the procedure.

Occult neurovesical dysfunction with anorectal malformations

To evaluate for the occurrence of occult NVD in children with anorectal malformations (ARM) using urodynamic evaluation. This prospective study was carried out on children with ARM prior to and following definitive procedure. Urodynamic studies were performed on the Phoenix Griffon machine (Albyn Medical) using Phoenix plus software. Nineteen children in the age range of 3 months to 156 months (mean = 19.2) were included in this study. Among these 19 children 13 underwent re-evaluation after definitive surgery for ARM. There were 11(57.9%) males and 8(42.1%) females. Of the 19 children 14 (73.7%) were cases of high anorectal malformation (HARM) and 5 (26.3%) were cases of low anorectal malformation (LARM). Baseline evaluation done in 19 children revealed seven urodynamic patterns: Normal capacity, compliant without uninhibited contractions (UIC) (21.1%); Normal capacity, compliant with UIC (5.3%); Normal capacity, poorly compliant without UIC (5.3%); Normal capacity, poorly compliant with UIC (10.5%); small capacity, compliant with UIC (5.3%); Small capacity, poorly compliant with UIC (26.3%) and large capacity, complaint with UIC (26.3%). Thirteen patients were evaluated post operatively also and in only 23% (3 of 13) no change in urodynamic pattern were observed. In the remaining 76.9% (10 of 13) some changes in urodynamics pattern were observed. The deleterious changes observed were appearance of UIC in 30.8% (4 of 13), decrease in the bladder capacity in 23% (3 of 13) and decrease in bladder compliance in 15.4% (2 of 13). Only 9 of of the 19 patients had normal urodynamics pre-operatively and post-operatively 3 more patients worsened. Incidence of occult NVD is high in patients with ARM even in the absence of clinical and radiological evidence of vertebral or lower urinary tract abnormalities. Though there seems to be a high incidence of changes in the neurovesical functions of these patients following definitive corrective surgery for ARM only time will show whether this has any deleterious effect on the upper tracts.