[Surgery of anomaly of the rectum and anus (imperforated anus)].
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Imperforate anus is one of the most common causes of intestinal obstruction in the newborn and the exact estimation of the level of the blind rectal pouch is of primary importance. We present 11 cases of imperforate anus and demonstrate the accurate location of the rectal pouch by transperineal injection of contrast media. This method shows an advantage in comparison to the classical plain roentgenogram in the inverted position of the baby. No unnecessary colostomies were performed since intraduction of the transperineal injection. The method is simple and there were no complications due to injection 10-15 cc of 20% Hypaque. Further studies are not in progress to demonstrate the presence or absence of an associated internal fistula in all cases.
Imperforate anus or anorectal atresia is often associated with major fetal structural defects but it may also be an isolated abnormality. Prenatal diagnosis is difficult but may be assisted by ultrasound detection of a dilated distal bowel or rectum. We report on a fetus at 12 weeks of gestation in which a dilated colon was detected at ultrasound examination. Dilatation of the colon was clearly seen in the first and third trimesters of pregnancy, but was difficult to detect in the second trimester. At birth, the newborn was diagnosed with a low type of imperforate anus.
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BACKGROUND/AIM: Imperforate anus without fistula consists of a spectrum of defects with variable distance between the rectal pouch and the perineum. We have developed a novel surgical approach for individual management of these patients based on precise knowledge of the level of the anomaly. METHODS: All consecutive patients with imperforate anus without fistula between 2002 and 2004 had sigmoidostomy performed after having failed to pass meconium in the first 24 hours. The upper pouch was intraluminally visualized using retrograde endoscopy through the sigmoid mucous fistula. The distal termination of the rectum was clearly identified as by convergence of the anal columns. Bright translumination of the endoscope light from the rectum to the anal dimple within the external sphincter indicated a low malformation amenable to transanal proctoplasty. The rectum was incised from below under endoscopic visual control. Poor translumination indicated a higher defect, in which case, the operation was converted to standard posterior sagittal anorectoplasty. RESULTS: Seven patients (6 boys) were identified. Four patients (3 boys) completed transanal endoscopic-assisted proctoplasty. In all cases, the convergence of anal columns indicating rectal termination was right above the anal pit at the site of the maximal external sphincter squeeze. In 3 patients, the operation was converted to posterior sagittal anorectoplasty after verification of a higher anomaly by endoscopy. There were no operative complications. The median follow-up was 3 months (range, 1-26 months). All patients have an appropriate size anus and regular bowel actions. CONCLUSIONS: Transanal endoscopic-assisted proctoplasty allows safe and anatomical reconstruction of the anorectum, as well as contemporaneous closure of the sigmoidostomy in a significant proportion of patients with imperforate anus without fistula, avoiding the potential complications associated with the open posterior sagittal approach.
Following surgical correction of imperforate anus, voluntary bowel control is frequently poor because of abnormal anorectal function. Using colonic manometry we investigated the role of colonic motility in the pathogenesis of fecal soiling in children following imperforate anus repair. Thirteen children with repaired imperforate anus and fecal soiling underwent motility testing 2-12 years after anoplasty. All had fecal incontinence unresponsive to conventional medical treatment. Colonic manometry was performed using water-perfused catheters. Anorectal manometry was undertaken in 10 patients. Motility study results, treatment and outcomes were compared. All patients had high-amplitude propagating contractions (HAPCs) with an average of 80% propagation into the neorectum. There was no correlation between HAPC number or morphology and any variable. Internal anal sphincter resting pressure was low in 6/10 patients. Relaxation of the internal anal sphincter was present in 6/10 children. Only 1 of 5 patients able to cooperate was capable of generating a normal maximal squeeze pressure. Therapeutic regimens were changed in 11 patients with clinical improvement in five. Fecal soiling in patients with repaired imperforate anus is a multifactorial problem including propagation of excessive numbers of HAPCs into the neorectum as well as internal anal sphincter dysfunction. Colonic manometry in conjunction with anorectal manometry aids in the understanding of the pathophysiology of fecal soiling and guides clinical management in children with repaired imperforate anus.
Infants born with imperforate anus have a high incidence of genitourinary anomalies. Vesicoureteral reflux was the most common abnormality in this series. Since these patients often have bacteriuria, this is an important finding. An intravenous pyelogram and voiding cystourethrogram should be part of the evaluation of each neonate with imperforate anus. Persistent cloaca, a frequent finding in the female patients, may require special diagnostic attention.
Cor triatriatum and imperforate anus are rare. We describe, for the first time, the coexistence of these conditions in a 43 year old woman.
In children with high imperforate anus, their quality of life (QOL) is directly related to their success or failure in attaining fecal continence (FC). At the Children's Hospital of Philadelphia, 120 patients were treated for high imperforate anus. Sixty-one patients were available for long-term follow-up ranging from 2.5 to 24 years. The patients were analyzed in three separate time periods. The purpose of the study was to (1) establish a reproducible quantitative and qualitative scoring system for evaluating QOL; (2) identify clinical techniques for maximizing fecal continence; and (3) develop an algorithm for long-term management of children with persistent fecal incontinence. QOL scores and FC scores were similar for males and females. Patient age, however, proved to be a particularly important factor in QOL. As the length of follow-up increased, there was a significant difference in the percentage of those patients with a QOL score higher than FC score; 57% for the youngest patients v 15% and 7% for the older patients (P less than .01). Ninety-two percent of patients who were 10 years old or less had very supportive families. These families used a number of stratagems to minimize incontinent problems: liners in underpants, enemas, meticulous perineal hygiene, and avoidance of certain foods. After 10 years of age, a child's FC score became a major determinant of his QOL. Older children with fecal incontinence could no longer be shielded by parents and were not well tolerated by teachers and peers. From this study, an algorithm is proposed for children with impaired FC.(ABSTRACT TRUNCATED AT 250 WORDS)
Genitourinary malformations are frequently associated with imperforate anus, and death from renal failure is reported in up to 6% of children with supralevator imperforate anus. In recent years, advances in renal transplantation and the management of end-stage renal disease (ESRD) have extended these therapies to infants in the first 2 years of life. In infants with imperforate anus and ESRD, it is unclear if the additional burdens of the anorectal malformation and its staged repair contraindicate dialysis and transplantation. This report describes our experience with three such infants and outlines an approach to their care, addressing the following key issues: the initial surgical management of the imperforate anus, the careful search for associated urinary tract and other malformations, the ESRD management, and the appropriate timing of the staged bowel reconstruction and renal transplantation. These cases confirm that such children may be successfully managed by dialysis and renal transplantation co-ordinated with bowel reconstruction; however, there remain the long-term risks of immunosuppression, bladder and bowel dysfunction, and associated congenital anomalies.
OBJECTIVE: Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition. PATIENTS AND METHODS: Fetuses and infants with imperforate anus who had been examined prenatally by ultrasound at the National Center for Fetal Medicine (NCFM) from 1987 to 2004, were evaluated. RESULTS: Of 69 cases with imperforate anus, only 11 (15.9%) were diagnosed prenatally, at a median gestation of 18 + 4 (range, 15 + 6 to 35 + 6) weeks. In all 11, dilatations of the rectum or lower part of the bowel were seen. Additional anomalies, most of them diagnosed prenatally, were present in 59/69 (85.5%) of the cases. The most frequent additional anomalies were urogenital (53.6%). The karyotype was abnormal in nine cases (13.0%). A retrospective evaluation of available videotapes of 22 cases of imperforate anus that were not diagnosed prenatally revealed that it was possible to suspect the diagnosis in 11/22 (50%) cases. Sixteen infants were born with imperforate anus without prenatal diagnosis of any abnormality. In total, 31/69 (44.9%) cases were terminated, two (2.9%) died in utero and 12 (17.4%) died postnatally. Twenty-four (34.8%) infants survived, including all 10 with isolated imperforate anus and seven of eight cases with only one additional anomaly. CONCLUSIONS: The prenatal detection rate of imperforate anus was only 15.9%. Imperforate anus is often associated with other anomalies; in this study, 85.5% had additional anomalies. Prenatal diagnosis makes prenatal counseling possible and facilitates optimized postnatal care. We believe that the prenatal detection rate of imperforate anus could be improved. Examiners should intensify their search for typical findings of imperforate anus especially when other anomalies that frequently accompany this condition are present.
Neurological deficits may occur in some children with imperforate anus produced by unrecognized spinal cord anomalies amenable to neurosurgical correction. Although this association has been well described, its frequency has not been defined. The authors prospectively studied 45 infants with imperforate anus from 1985 to 1992 to establish the frequency of this association. Eighteen infants (40%) had high imperforate anus, 24 had low imperforate anus (53%), and 3 had anal stenosis (7%). All underwent radiographic spinal cord imaging in early infancy, which consisted of radiographs (45), ultrasound (26), magnetic resonance imaging (29), computed tomography (1), and myelography (1). Thirty-three percent of the patients with imperforate anus had bony sacral abnormalities. Eight infants were discovered to have spinal cord abnormalities. Two of those infants had obvious myelomeningocele at birth, and 6 infants (14%) had occult spinal dysraphism consisting of tethered cord with or without associated lipoma of the cord. There was no correlation between the presence of tethered cord and the gender of the infants, the type of malformation (high versus low imperforate anus), or the presence of sacral dysplasia (Fisher's exact test). Five of the infants who were found to have tethered cord underwent neurosurgical intervention and repair of the defect, and 1 infant was followed up clinically. The mean follow-up time of all the infants was 2.5 +/- 0.9 (+/- SD) years. No neurological sequelae occurred in the infants who had surgical correction. The frequency of occult spinal dysraphism with imperforate anus was 14%. It was independent of the type of imperforate anus or the coexistence of bony sacral anomalies.(ABSTRACT TRUNCATED AT 250 WORDS)
BACKGROUND/PURPOSE: Imperforate anus is an unusual malformation, which, even after surgical intervention, usually entails constipation and fecal incontinence. This study aimed to evaluate ongoing psychosocial effects of this birth defect in school-aged children. METHODS: Twenty-five children born with high and intermediate imperforate anus participated in the study, along with their parents and classroom teachers. One group of healthy children and 1 group of children with juvenile chronic arthritis, along with their parents, served as controls. Children and parents individually answered a questionnaire devised for this study. Parents filled out the Child Behavior Checklist and the children's teacher filled out the Teacher's Report Form. RESULTS: According to test results, children with imperforate anus were happy and optimistic. They liked school better and reported better relationships with schoolmates than the other children. The index group reported statistically significantly more frequent constipation. According to parental responses, the imperforate-anus children suffered from fecal incontinence and odor, as well as constipation (P < .001). Index-group parents reported on the Child Behavior Checklist that their children had more emotional and behavioral problems. On the Teacher's Report Form, teachers reported few problems for the same children. CONCLUSIONS: Patients with imperforate anus did not experience psychosocial impairment despite significant functional problems.
Ninety-four patients with congenital imperforate anus were studied to investigate: (1) the incidence of congenital spinal anomalies; (2) the orthopedic significance of these anomalies; (3) the incidence of other musculoskeletal disorders; and (4) the incidence of anomalies in other organ systems in the anal-spine anomaly group. There was a 38% incidence of spinal anomalies in 94 patients with congenital imperforate anus. Most of these abnormalities were sacral, and there were no related or progressive spinal deformities. The incidence of other musculoskeletal anomalies was much lower than of the spine (only 9% of the total). The triad of caudal regression-imperforate anus, spinal anomalies, and genitourinary tract anomalies-was present in 19 (53%) of the 36 cases, much more than any other combination of major system abnormalities such as the VATER of VACTEL syndromes.
Of 49 children with imperforate anus, 23 underwent an abdominoperineal procedure for a high and seven for a low maliformation, 17 had a perineoplasty for a low and two for a high malformation. In each subject, rectal and anal sphincteric resting pressures were studied at least 1 yr after surgery. Of 30 subjects who had undergone an abdominoperineal procedure, eight were continent in contrast to 15 out of 19 patients who had had a perineoplasty (p less than 0.001). In patients who had undergone an abdominoperineal procedure, the rectal motility was of the colonic type, with waves of higher amplitude and lower frequency (p less than 0.01) than in the normal rectum in 23 cases and in most of these, peristalsis was recorded down to the anal margin. Incontinence was most frequently associated with abnormally short anal resistance, low anal pressure, reduced sensibility, weak voluntary contraction and absence of rectoanal inhibitory reflex. In the group of patients who underwent perineoplasty, continence was associated with normal mechanical parameters and normal physiologic behavior of the anal sphincter.
Three children with successful imperforate anus repairs had chronic, intractable obstipation and recurrent fecal impaction refractory to diligent medical therapy. All had massive stool-filled rectums up to 14 cm in diameter on abdominal radiographs. They responded well to resection of the baggy atonic rectum with low anterior anastomosis. The massively dilated atonic rectal pouch in some children with repaired imperforate anus can demonstrate abnormal motility characterized by poor peristalsis and propulsion. This results in recurrent obstipation, impaction, and soiling refractory to the usually successful medical management.