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At least 19 recordsLinked to original sources
PubMed2006

An exceptional type of anorectal malformation: anorectal atresia with posterior fistula in a newborn male.

The authors report the case of a newborn male with an exceptional type of anorectal atresia with a fistula that passes posterior to the muscle complex and exits at a site just to the tip of the coccyx. This anorectal malformation was associated with other abnormalities including agenesis of the right kidney, pyelic dilatation of the left kidney, duplicity, and left megaureter. There was no defect in the spine. The anorectal malformation was managed successfully by a posterior sagittal approach according to the Pena procedure.

Abnormalities, Multiple↗
PubMed1991

[Clinical studies for genitourinary anomalies with anorectal malformations].

Anorectal malformations involve genitourinary anomalies frequently. In this study, the treatment and prognosis for genitourinary anomalies in 8 patients with anorectal malformations were discussed. All patients were men (range 1 to 14 years). Seven of them showed high types of anorectal malformations and one low type. Five patients were managed surgically. Among them, 3 were treated successfully, but the outcome was not good for 2 patients. These 2 patients have been followed up under careful observation. The treatment could not be performed on one patient with poor bowel function. In this series, successful results were obtained on patients with a low degree of anomalies. However, there were hazard problems in patients with a high degree of anomalies. Neurogenic bladder was included among these problems. It is difficult to diagnose and treat genitourinary anomalies on a newborn baby with anorectal malformations, when these anomalies might be complicated with other severe anomalies such as congenital heart diseases. In such cases, genitourinary anomalies should be treated as conservatively as possible until the patient's condition has improved.

Adolescent↗
PubMed2004

Long-term outcomes of anorectal malformations.

Anorectal malformations (ARMs) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tracts. They affect approximately 1 in 3,500 live births. The treatment of these patients has traditionally focused on achieving urinary and faecal continence, with preservation of renal function. With improved surgical techniques and paediatric intensive care facilities, these patients now live relatively normal lives, with a near-normal life expectancy. Comparing results reported by different surgeons is difficult because a wide range of terminology is employed to describe the anomalies encountered. This paper attempts to simplify some of the reported outcomes of bowel function to allow a more direct comparison between groups. Urinary outcomes were not so easily comparable due to the disparity in assessing patient outcomes. Therefore, before a global analysis of all groups can take place, a standardised terminology will be necessary. At present there is a gap in the published literature of comprehensive follow-up in this group of patients, particularly regarding reproductive and sexual functioning. More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child.

Anal Canal↗
PubMed1995

[Urinary tract abnormalities associated with anorectal malformations].

Anorectal malformation (ARM) is often associated with urological problems such as congenital urogenital anomalies, recto-urinary fistula, neurogenic bladder due to vertebral anomalies and operative complications. We analyzed 57 cases of ARM and discussed about the management of associated urogenital anomalies during neonatal and infantile period. The incidence of urogenital anomalies was 85.7% in high type, 65.5% in intermediate type and 38.1% in low type. Among these urinary tract anomalies, VUR was most common and was documented in 38.6% of ARM patients. Renal dysplasia, PUJ stenosis, megaureter and urethral stenosis was also common in these patients. Renal dysfunction was documented in 5 cases (2 in high type, 2 in intermediate and 1 in low type), mainly due to VUR and renal aplasia. These results show the need for evaluation of urinary tract during the neonatal and early infantile period even in low type ARM. The management of urinary tract anomalies associated with ARM is firmly related with the management of ARM itself, and we must be closely in co-operation with pediatric surgeons.

Abnormalities, Multiple↗
PubMed1993

Constipation is a major functional complication after internal sphincter-saving posterior sagittal anorectoplasty for high and intermediate anorectal malformations.

Anorectal function was clinically, manometrically, and radiologically followed-up in 40 patients who underwent an internal sphincter-saving posterior sagittal anorectoplasty in 1984 to 1989. The functioning internal sphincter was manometrically verified in 83% (33/40) of the patients. Soiling related to sphincter insufficiency was found in only 4 of the 33 patients with a functioning internal sphincter; 5 of the 7 patients without an internal sphincter had soiling. Symptomatic constipation was found in 73% (24/33) of the patients with a functioning internal sphincter, but in only 28% (2/7) of the patients without this structure. Constipation was not associated with a stenotic anal outlet in any patient. On anorectal manometry, there was no statistical difference in basal and pressures and internal sphincter reflex threshold values between constipated and nonconstipated patients. Histologically, ganglion cells were found in the proximal anal canal in all cases. The radiological size of the rectal pouch before closure of the protecting colostomy had a positive correlation with the severity of constipation. Medical treatment with diet and bulk-laxatives (13 patients) or with stimulant laxatives and occasional enemas (11 patients) successfully relieved constipation in 24 patients. In 2 patients, the symptoms were refractory to medical treatment and a resection of the megarectum was required. In conclusion, the preservation of the internal sphincter in patients with high or intermediate anorectal anomalies gives a good fecal continence outcome, but is associated with a high incidence of symptomatic constipation.

Anal Canal↗
PubMed2000

Tethered cord syndrome in children with anorectal malformations.

OBJECT: Anorectal malformations are known to be associated with neurological deficits, which may contribute to the disability suffered by patients with these malformations. This study was undertaken to determine the incidence and pattern of sacral abnormalities in children with anorectal malformations, the incidence and nature of the neurological deficits, and the incidence and nature of operable intraspinal abnormalities in patients with this condition. METHODS: Neurological evaluation was performed in 81 children with anorectal malformations. Plain x-ray films were obtained to identify the presence of sacral abnormalities. The patients with neurological deficits were evaluated for the presence of operable intraspinal anomalies, and when such anomalies were identified, correction of the same was undertaken. In 21% of these children radiographic evidence of sacral abnormalities was shown. Fifteen percent of patients harbored neurological deficits, and 10% harbored operable intraspinal anomalies. In addition, one patient had split notochord syndrome. Patients with operable intraspinal anomalies underwent surgical correction, with resultant neurological improvement. CONCLUSIONS: Bone abnormalities of the sacrum, neurological deficits, and operable intraspinal lesions are not uncommon in children with anorectal malformations. Because the neurological deficits can contribute to the disability suffered by these individuals, we recommend routine screening of patients with anorectal malformations and neurological deficits and/or sacral abnormalities for the early identification and treatment of potentially correctable intraspinal lesions.

Anal Canal↗
PubMed2000

Advances in the management of anorectal malformations.

BACKGROUND: Anorectal malformations represent a continuing challenge for the pediatric surgeon. A significant number of these children suffer from fecal incontinence, urinary incontinence, and sexual inadequacy. However, major advances in the management of these children have occurred during the last 10 years. The posterior sagittal approach has led to a better understanding of the internal anatomy of these defects, and in turn, a more rational way to manage the patients. We present here our experience with the long-term follow-up of a large series of these patients operated on by us. METHODS: Clinical information from our database of patients with anorectal malformations was retrospectively reviewed. A total of 1, 192 patients operated on by the authors and observed for the last 19 years are included in the database. We searched for type of malformation, associated defects, results in terms of voluntary bowel movements, soiling, constipation, and urinary control. RESULTS: Globally, 75% of all patients have voluntary bowel movements. Half of this group still soils their underwear occasionally. Therefore, about 37.5% of all cases are considered totally continent. Constipation was the most common sequelae. Urinary incontinence was relatively common after the repair of cloacas. Male patients rarely suffered from urinary incontinence. Twenty-five percent of all cases suffered from fecal incontinence but they significantly improved their quality of life when subjected to a bowel management program. An operation called "continent appendicostomy" further improved their quality of life. CONCLUSION: All patients born with anorectal malformations can be kept clean of stool and dry of urine, either because they achieve bowel control or because they are subjected to a bowel management program.

Age Factors↗
PubMed2006

Perineal lipomas associated with anorectal malformations.

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.

Adolescent↗
PubMed2005

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations.

BACKGROUND: Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and assessment systems. METHODS: The goals of the Krinkenbeck Conference on ARM was to develop standards for an International Classification of ARM based on a modification of fistula type and adding rare and regional variants, and design a system for comparable follow up studies. RESULTS: Lesions were classified into major clinical groups based on the fistula location (perineal, recto-urethral, recto-vesical, vestibular), cloacal lesions, those with no fistula and anal stenosis. Rare and regional variants included pouch colon, rectal atresia or stenosis, rectovaginal fistula, H-fistula and others. Groups would be analyzed according to the type of procedure performed stratified for confounding associated conditions such as sacral anomalies and tethered cord. A standard method for postoperative assessment of continence was determined. CONCLUSIONS: A new International diagnostic classification system, operative groupings and a method of postoperative assessment of continence was developed by consensus of a large contingent of participants experienced in the management of patients with ARM. These methods should allow for a common standardization of diagnosis and comparing postoperative results.

Anal Canal↗
PubMed1998

Anorectal malformations--update 1998.

Anorectal malformation is a common congenital anomaly. Its correction still challenges the wisdom and expertise of the pediatric surgeon. From 1977 through 1997, approximately 400 cases of this anomaly were treated at this institution. Prior to 1985, cut-back anoplasty and translocation anoplasty were the treatments of choice for the low anomalies, and abdominoperineal pull-through anoplasty or sacroperineal anoplasty (and their modifications) preferred for the intermediate or high defects. Since 1985, posterior sagittal anorectoplasty (PSARP) has been adopted exclusively as the operative procedure for the correction of the entire spectrum of anorectal malformations. Two hundred patients have undergone this procedure either primarily (N = 166) or secondarily (N = 34). PSARP is a procedure which enables the surgeon to repair the pelvic anatomy under direct vision, maximally utilizing all the existing continence muscles and hence resulting in better fecal continence. With minimal, limited or maximal division of the continence muscles under one same skin incision, the entire spectrum of this defect can be repaired. The result of cosmesis is generally regarded as better, and the immediate postoperative complications are fewer. In spite of all efforts, 10 to 30% of patients still suffer from total fecal incontinence which is intractable to all kinds of medications and enemas. A bowel management program with large volume enemas, either through the anus or a Malone appendicostomy, retrogradely or antegradely, to wash out stool in the colon and rectum may be necessary to keep the patient clean and more socially acceptable. Biofeedback therapy offers another alternative to improve continence with the development of better computer systems and manometry equipment. This review provides a new concept of the fecal continence mechanism and an operative procedure for constructing a new anorectum based on this concept for the treatment of patients with anorectal malformations.

Anus, Imperforate↗
PubMed1997

Fecal incontinence in children with anorectal malformations.

Children with anorectal malformations suffer from postoperative fecal incontinence as well as other forms of defecation disorders such as constipation, soiling, and incontinence associated with episodes of diarrhea. Indiscriminate use of laxatives, enemas, and pharmacotherapy is not recommended. Rather, it is possible to systematically diagnose and manage fecal incontinence after reconstruction for anorectal malformations. Three groups of children have been identified: candidates for reoperation, candidates for a bowel management program, and pseudoincontinent children. Postoperative evaluation for fecal incontinence should include accurate identification of the type of anorectal anomaly and knowledge of the original reconstructive procedure. In addition, history, physical examination, and review of radiological studies are mandatory, with detailed attention paid to the status of the striated external sphincter musculature and sacrum. Children then can be managed based on the type of fecal incontinence from which they suffer. Bowel management is successful only when performed in an organized manner, and it is recommended as an outpatient procedure.

Anal Canal↗
PubMed2000

Presentation of low anorectal malformations beyond the neonatal period.

OBJECTIVE: Anorectal malformations are usually diagnosed at birth, but some patients have presented to this institution beyond the early newborn period without recognition of their anorectal malformations. To quantify the extent of this problem, we undertook a review of all patients presenting to this hospital with anorectal malformations. METHODS: We reviewed all new cases of anorectal malformations treated at British Columbia's Children's Hospital during the past 11 years. We looked specifically at the time of diagnosis, patient age, sex and mode of presentation, the type of anorectal malformations, and any associated anomalies. RESULTS: One hundred twenty new cases of anorectal malformations were seen here, of whom, 15 patients (9 girls and 6 boys) presented beyond the early newborn period. Of these, 1 male infant was diagnosed at 2 weeks of age and another girl at 14 years of age. The remaining 13 presented between 3 and 11 months of age because of increasing constipation, usually associated with the introduction of solid foods. All had low anorectal malformations. Nine patients had at least 1 other feature of the VACTERL complex. CONCLUSIONS: Most anorectal malformations are identified at birth, but a significant number of the milder lesions may not be recognized until later. Therefore, this condition must be considered in older infants and children presenting with constipation, particularly if they also have cardiac or genitourinary anomalies. constipation, imperforate anus, VACTERL.

Adolescent↗
PubMed2005

Outcomes from the correction of anorectal malformations.

PURPOSE OF REVIEW: Anorectal malformations have been recognized and managed since antiquity, with surgical treatment evolving to maximize anatomic reconstruction, avoid complications, and understand mechanisms of incontinence, ultimately leading to improved quality of life for patients. This review describes recent advances in the management of anorectal malformations, including prenatal diagnosis, newborn treatment, surgical correction, and postoperative care. RECENT FINDINGS: Surgical treatment has improved with better understanding and exposure of anatomy and appreciation of the intimate relation between rectum and urinary tract. Repair of cloacal malformations has evolved to include the total urogenital mobilization and an appreciation of the complex associated Mullerian anomalies. The importance of associated urologic, gynecologic, neurologic, and orthopedic malformations has been recognized. Addition of a bowel management program to patients' postoperative care has increased dramatically the number of children who are clean and dry. SUMMARY: Management of anorectal malformations requires an accurate clinical diagnosis, proper newborn treatment, meticulous anatomic reconstruction, and comprehensive postoperative care with the goal of having a child who is clean and dry, with an excellent quality of life, because they either have the capacity for continence or can be kept artificially clean with a comprehensive bowel management program.

Abnormalities, Multiple↗
PubMed1991

[Blocked transcolostomy colonography in the identification of anorectal malformations].

The study of anorectal malformations has considerably improved over the last years also thanks to the use of such diagnostic techniques as CT and MR imaging, which allow a better knowledge of perineal region anatomy and the demonstration of the development of sphincteric structures. The most important diagnostic phase for the identification of anorectal malformations consists in the detection of rectal fistulas. The authors report on their experience with barred water-soluble contrast enema in the study of anorectal anomalies. Over 2 years, 23 patients with anorectal malformations (10 males and 13 females) previously submitted to colostomy, were studied with this method. Fistulas were detected in 21 cases; in the extant 2 patients (both females affected with Down syndrome), no fistulas were detected, not even at surgery, which was posterior sagittal anorectoplasty according to Peña-De Vries. In our experience, the most frequent anomalies were recto-bulbo-urethral fistula in males and low recto-vaginal fistula in females. The authors suggest the use of this method as a routine diagnostic examination, because of its proven reliability.

Anal Canal↗
PubMed2007

Outcome of excision of megarectum in children with anorectal malformation.

BACKGROUND/PURPOSE: Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. METHODS: We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. RESULTS: Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. CONCLUSION: Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal continence.

Adolescent↗
PubMed2004

Fibroblast growth factor 10 (Fgf10) invalidation results in anorectal malformation in mice.

BACKGROUND/PURPOSE: Anorectal malformations occur in 1 per 4,000 live births and represent a surgical challenge. Although critically important, the basic mechanisms of normal anorectal union are incompletely understood. Fgf10 signaling is known to serve a key role in mesenchymal/epithelial interactions in many organ systems including the gastrointestinal tract (GIT). The authors therefore hypothesized that Fgf10 signaling has a central role in normal anorectal development. METHODS: Fgf10 expression in wild-type (Wt) embryos was evaluated using whole-mount in situ hybridization. Wt and Fgf10-/- embryos were harvested from timed pregnant mothers at E12.5 through E17.5 and were analyzed for anorectal phenotype. RESULTS: Wt development of union between anorectal structures is completed between E12.5 and E13.5 with luminal communication between distal rectal epithelium and anus. Fgf10 is discretely expressed at E12.5 in the distal rectum. Fgf10-/- mutants show failure of union of the rectum and anus at an early stage (E13.5) and near term (E17.5). CONCLUSIONS: Fgf10 is expressed in the rectum at the time when anorectal continuity is established, indicating a role in normal anorectal development. Fgf10 invalidation (Fgf10-/- mutant) results in a genetically reproducible anorectal malformation phenotype. Fgf10 function is critical for normal anorectal development.

Anal Canal↗
PubMed2000

Incontinence and constipation after low anorectal malformations in a boy.

BACKGROUND: Low anorectal malformations are considered to be a benign type of anorectal malformations. Their treatment is simple in the neonatal period and gives good results as far continence is concerned. METHODS: We studied a group of 55 boys with low anorectal malformations which had been surgically treated between the 1st January 1975 and the 31st December 1992. We studied the initial treatment and the associated anomalies, 5 patients have died. 27 were seen for an interview and a clinical examination. Extra investigations (anorectal manometry or electromyography of external sphincter) were only offered to consenting patients with an ongoing problem. RESULTS: 3 to 20 years had passed since their operations. Associated anomalies had been found in 11 children. The initial treatment was a perineal procedure in 20 cases and a colostomy in 8 cases. Dilatations were carried out on 11 children. Faecal and urinary continence had been acquired before 30 months of age. 13 children (48%) had problems of soiling and/or chronic constipation. There was no difference between these children and the 14 continent ones regarding the type of malformation, the initial treatment and the follow-up. Anorectal manometry (performed on 9 cases) showed 4 anorectal dyssynergies. It was normal in 3 cases. The Recto Anal Inhibitory Reflex was always present. CONCLUSION: Problems of continence are not rare in the evolution of low anorectal malformations. We suggest therefore a long-term clinical follow-up for those children, with one anorectal manometry control being performed after continence is acquired.

Anal Canal↗