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PubMed2004

Imperforate anus associated with atresia of the transverse colon: a case report.

We describe here a rare case of association of imperforate anus with transverse colon atresia in a male neonate. Preoperative X-ray studies demonstrated: a) a distended loop in the epigastrium with fluid levels on plain A/P upright radiography, b) absence of pelvic intestinal gas on the invertogram 16 hours later. A three-stage operative approach was undertaken comprising resection of the atretic loop and colostomy, posterior sagittal anorectoplasty a few months later, and finally closure of the colostomy. The postoperative outcome was good. The association of these anomalies should be kept in mind in neonates with anal atresia and abdominal distention.

Anal Canal↗
PubMed2002

Two orifices in the perineum of a girl with imperforate anus: possibility of uterovaginal agenesis associated with rectovestibular fistula.

The authors describe 4 cases of rectovestibular fistula associated with uterovaginal atresia. The diagnosis of the associated uterovaginal atresia was missed in the neonatal period in all 4. It was diagnosed in 2 cases at puberty while investigating for amenorrhea; the other 2 were discovered during the repair of anorectal malformation in early childhood. A variety of techniques were used successfully for vaginal reconstruction. The authors believe that the incidence of such an association is very similar to that of imperforate anus with rectovaginal fistula and therefore suggest that if there are 2 orifices in the perineum of a girl with imperforate anus, it could be either a rectovaginal fistula or a rectovestibular fistula with uterovaginal agenesis. They recommend that all such neonates have an endoscopy or a magnetic resonance imaging done to distinguish between the 2 conditions. This distinction is of importance because the latter would require a concomitant vaginal reconstruction procedure along with anorectoplasty.

Abnormalities, Multiple↗
PubMed1998

Congenital megalourethra associated with urethral duplication and imperforate anus.

A newborn with a prenatal diagnosis of right hydroureteronephrosis and enlarged penis is presented. At birth, the baby had an imperforate anus (IA) with a megalourethra; radiologic and ultrasonographic studies showed a left polycystic kidney and right hydroureteronephrosis, right vesicoureteral reflux, and an incomplete urethral duplication with dilatation of the posterior urethra. The IA was corrected on the 1st day of life and a vesicostomy was performed at 1 month. At 1 year of age the valve obstructing the ventral posterior urethra was resected and the vesicostomy was closed. At 14 months the baby underwent a urethroplasty with a vertical preputial tubularized island flap and excision of the penile urethral duplication. Exact knowledge of the malformation was essential in planning the appropriate surgical treatment.

Anus, Imperforate↗
PubMed1990

Advantages of performing the sagittal anoplasty operation for imperforate anus at birth.

The development of the posterior sagittal anorectoplasty approach has been a major recent advance in the repair of imperforate anus. It has been found that sagittal anoplasty can easily and preferably be carried out in the newborn period without the need for colostomy or "tapering." It is suggested that the perineal sagittal approach be attempted first, with the infant positioned so that the abdominal part of the abdominoperineal approach can be used if necessary--this seldom may be required. Neonatal closure of urinary tract fistulas in boys is an added attractive feature of this approach. The importance of optical magnification (microsurgery) and excellent, intense lighting of the perineal area with a headlamp is stressed for this approach in the newborn, particularly for the management of high pouches and high fistulas. This operation at birth relieves alimentary tract obstruction at birth, eliminates urinary tract contamination (when it exists) at birth, establishes anorectal continuity and maximum potential for "normal" defecation reflexes at birth, and achieves all of this in one rather than three operations.

Anal Canal↗
PubMed1993

The use of a long split rectal tube to aid in pull-through procedures for imperforate anus.

Problems with loss of correct orientation of the pull-through rectal pouch during posterior sagittal anorectoplasty (PSARP) for high imperforate anus can occur during laparotomy after perineal closure is complete. A simple modification of the de Vries-Peña technique is described that facilitates preservation of orientation and precise anatomical neomuscle construction. A slotted rubber tube preserves correct anatomical orientation of the neorectal pouch and allows accurate construction of the muscle complex around the tube.

Anus, Imperforate↗
PubMed2004

[Long-term outcomes of individualized biofeedback training based on the underlying dysfunction for patients with imperforate anus].

OBJECTIVE: Although better anorectal function was achieved due to the advanced operation procedures, the fecal incontinence and constipation still remain as major postoperative complications. The aim of this study was to design a individualized biofeedback program based on the underlying dysfunctions and to assess the short-term and long-term clinical and quality of life outcomes for patients with imperforate anus. METHODS: Thirty-one patients were treated using individualized biofeedback program according to their different dysfunctions after completed assessment of anorectal function. The many of special biofeedback training methods that consisted of the strengthening perianal muscles biofeedback, sensory discrimination biofeedback, synchronizing external sphincter contraction biofeedback and improving defecation dynamic biofeedback were selected to make up the individualized biofeedback training program. The clinical scores and quality of life scores were assessed at short-term and long-term follow-up. RESULTS: The clinical scores and quality of life scores in patients at before training group, after biofeedback training group, short-term follow-up group and long-term follow-up group were 3.2 +/- 1.1 and 8.7 +/- 1.1, 5.2 +/- 0.6 and 11.0 +/- 0.8, 5.0 +/- 0.6 and 10.8 +/- 0.9, and 4.6 +/- 0.7 and 10.0 +/- 0.7 respectively. After biofeedback training, the first leak volume and all parameters that evaluated the function of the perianal muscles were increased significantly, the abnormal rectal threshold sensations and defecation dynamics were reverted to normal, and 82% patients who have not external anal sphincter reflex acquired the new reflex. The latencies of pudendo-anal reflex have significant difference in patients with poor response compared with those patients with good response before and after the biofeedback training. At short-term follow-up 12 patients (57%) maintained the clinical outcome and only 9 patients (43%) have regressions slightly. At long-term follow-up 7 patients (33%) maintained the clinical outcome very well and 14 patients (67%) have regressions. Although the clinical and quality of life scores have decreased slightly at follow-up, they were still increased significantly compared with before biofeedback training group. CONCLUSION: The causes of postoperative fecal dysfunction in patients with imperforate anus are multifactorial, and the individualized biofeedback is more suitable for improvement of the clinical outcome and the quality of life, and it maintain good clinical outcome and quality of life at short-term and long-term follow-up.

Adolescent↗
PubMed1985

The genital tract in female children with imperforate anus.

A retrospective study was undertaken to determine the type and frequency of genital tract anomalies that occur in female children with imperforate anus. The functional outcome and optimal management of the genital tract anomalies were also studied. Primary vaginal anomalies occurred in 22 of 72 patients assessed, and uterine anomalies occurred in 18 of 51 patients assessed. For 17 patients, who were 13 years of age or older, information was available on genital tract function. Of these 17 patients, five had severe vaginal scarring. A previous vaginoplasty or cloacal abnormality was a predictor of poor vaginal function. It is suggested that vaginoplasty, in cases in which it is possible, be delayed until puberty.

Abnormalities, Multiple↗
PubMed2002

Therapeutic cecostomy tubes in infants with imperforate anus and caudal agenesis.

BACKGROUND/PURPOSE: Caudal agenesis is indicative of a poor prognosis for achieving normal bowel function in children with high imperforate anus (HIA). Complications with impaction, soiling, megarectosigmoid, and adverse responses to rectal enemas are inevitable and associated with long-term psychosocial dysfunction. In an attempt to avoid these outcomes, the authors began a prospective evaluation in these high-risk patients of skin level cecostomy tubes placed in infancy. METHODS: Between October 1997 and March 2001, 8 infants with variants of caudal agenesis underwent presumptive therapeutic placement of a cecostomy tube in conjunction with colostomy closure (n = 7) and anal transposition (n = 1). Mean age at time of cecostomy placement was 16 months. Efficacy of daily irrigations with individually modified electrolyte solutions has been evaluated over the subsequent 1 to 41 months with a mean follow-up of 22 months. RESULTS: Effective daily colonic evacuation was achieved in 7 infants. Transient episodes of incomplete emptying often associated with soiling were resolved with adjustments in solution contents and volume. No patient has required admission for impaction, and only 1 patient has required rectal enemas. There have been no major complications, and minor problems with cramping, granulation tissue, and site discomfort quickly resolved. One patient with anal anastamotic stricture consistently has not responded to antegrade irrigation and continues to require intermittent rectal enemas and anal dilation. Attempts to wean the irrigations occur as the infants grow older and are able to participate in toilet training; however, in this preschool population, tapering of the frequency has been tolerated only transiently. CONCLUSIONS: Antegrade enemas via a cecostomy device are highly effective for bowel management in infants with HIA and caudal agenesis. They can be placed with minimal morbidity at the time of initial reconstruction or colostomy closure. Consideration of this procedure in all infants with HIA may be indicated.

Anus, Imperforate↗
PubMed1995

Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam.

A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of Diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. Birth weight was 3600 g and other measurements were not recorded. Colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Drug-Induced↗
PubMed1985

High imperforate anus--quantitative results of long-term fecal continence.

In a 22-year period, 120 patients were admitted for treatment of a high imperforate anus. Sixty-one patients were available for long-term assessment following a pull-through procedure. These patients were evaluated by written questionnaire and personal interview. Both a qualitative and quantitative fecal continence score were established to provide a system for long-term follow-up that was both reproducible and easy to use. These results were grouped according to the length of time following repair and type of repair performed. Three follow-up time periods were used: 2.5 to 9 years; 10 to 16 years; and 17 to 24 years. During this study, three different procedures were used: sacroperineal (SP), sacroabdominoperineal (SAP), and abdominoperineal (AP). Grouping all three procedures together, the percentage of patients with "good" fecal continence increased in time from 33% to 58% to 64%. Patients undergoing an SP repair uniformly had good results by 10 or more years following repair. In contrast, all patients undergoing an SAP or AP repair had only fair quantitative results 10 to 16 years following repair. Females generally had much better results than males but females also tended to have a lower rectal pouch than males. A comparison of this survey with the results of Swenson, Kiesewetter, Stephens, and Rehbein supports the following conclusions: the anatomic level of rectal pouch at birth predicts fecal continence better than the sex of the patient or type of procedure used; patients in whom the full thickness, terminal rectal wall is used in performing the pull-through procedure have the best fecal continence results.(ABSTRACT TRUNCATED AT 250 WORDS)

Anus, Imperforate↗
PubMed1988

Imperforate anus with long but apparent low fistula in females.

Despite the low entry of the rectum into the vagina in some females with imperforate anus, the fistula may be deceivingly long. This variation should alert the surgeon to measure the fistula prior to anoplasty. During surgery, biopsies of the mobilized segment should also be done to assure that cloacal-transitional lined structures have been removed and rectal mucosa anastamosed to the perineum.

Anus, Imperforate↗
PubMed2000

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome.

We describe a 2-month-old boy with penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogenital malformations and characteristic facies closely resembled two unrelated patients with minute deletions of chromosome 13q who we reported earlier. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q33.2qter that regulate(s) the migration and development of ano-reno-genital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis). Additional studies are needed to further delineate the genetic defect.

Abnormalities, Multiple↗
PubMed1997

Accessory scrotum with imperforate anus.

Accessory scrotum is the rarest anomaly of the scrotum; less than two dozen cases have been reported. A case of accessory scrotum with imperforate anus is reported.

Anus, Imperforate↗
PubMed1975

Calcified intraluminal meconium in newborn males with imperforate anus. Enterolithiasis in the newborn.

Five cases are reported and reference is made to 3 previous similar cases of calcified intraluminal meconium in newborn males with "imperforate anus." A rectourinary fistula was found in most of the patients; none of the cases had meconium peritonitis. The calcifications may develop in areas of prolonged stasis; the possible added role of the mixture of urine and meconium in utero is raised.

Abnormalities, Multiple↗
PubMed1995

Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome.

A patient with multiple congenital malformations, including imperforate anus, bilateral cryptorchidism and microphallus, is described. At 4 months of age the infant had generalized convulsions and hypoglycaemia. Bilateral hydronephrosis was diagnosed at 8 months of age. At 10 months he was diagnosed as having panhypopituitarism secondary to anterior pituitary hypoplasia, shown on CT and MRI scans. This clinical picture partially resembles that of Hall-Pallister syndrome. However, the absence of some typical features such as craniofacial and limb abnormalities and, above all, hypothalamic hamartoblastoma, would also suggest the possibility of a new, previously unreported, syndrome.

Amino Acids↗
PubMed1989

Preservation of infralevator structures in imperforate anus repair.

In this report, we describe the most recent refinements to the anterior perineal approach originally described by Mollard for the repair of high and intermediate forms of imperforate anus. A skin tube is constructed from perineal skin, passed through the center of the external sphincter, and anastomosed to the fully preserved rectum with or without tapering. The anastomosis lies within the puborectalis sling and is anchored to the striated muscle complex. Sixteen patients have been operated on by this technique with excellent anatomic results in 15 patients and excellent early functional results in patients who are 2 years of age or older.

Anal Canal↗
PubMed1979

An analysis of ultrasound scanning as a guide in determination of "high" or "low" imperforate anus.

The classic upside-down abdominal roentgenogram and the use of pelvic reference points have frequently been inaccurate in assessing the level of the distal pouch in patients with imperforate anus. The ultrasonic study described is different from that previously reported and allows more precise localization of the distal rectal pouch. A review of our experience allows us to make certain definitive statements about this diagnostic modality.

Anus, Imperforate↗