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PubMed1986

"High" anorectal anomalies treated by early (neonatal) operation.

Between 1973 and 1983, 18 patients with "high" anorectal anomalies were treated by one of the authors (N.V.F.) by immediate sigmoid loop-colostomy, followed by a sacroperineal or abdominosacroperineal pull-through operation as soon as possible thereafter. This was performed in seven patients between 1 and 14 days, in seven patients between 15 and 40 days, and in four patients between 60 and 120 days. Daily anal dilatations were started 7 to 10 days postoperatively and continued until the anus was soft and supple. The colostomy was then closed, the aim being to complete all treatment by the age of 3 to 4 months. Continence was assessed using Kiesewetter's criteria. Results in 70% were "good", 18% "fair", and 12% "poor". The clinical results are discussed together with the possible advantages of definitive surgery in the neonatal period for "high" anorectal anomalies.

Abnormalities, Multiple↗
PubMed1987

A case of congenital colonic atresia associated with atresia ani.

The association of atresia ani with congenital colonic atresia is extremely rare, with only one such case having been reported up to date. We have recently treated a female infant with atresia ani (covered anus complete) accompanied by atresia of the sigmoid colon, who was managed by three stage surgery.

Anal Canal↗
PubMed1987

Focal ectasia of the terminal bowel accompanying low anal deformities.

Three patients were treated at birth for low anal deformities and developed intractable constipation, not imputable to usual causes of rectal inertia. Barium enema, done the first time at ten days of age in one case, revealed focal ectasia of the terminal bowel, with a peculiar "balloon-like" aspect of the rectum. Optimal treatment includes resection of the terminal bowel down to the dentate line. Incidence of this anomaly in association with low anal deformities has been 5% in our series.

Abnormalities, Multiple↗
PubMed1988

High proximal pouch esophageal atresia with vertebral, rib, and sternal anomalies: an additional component to the VATER association.

The base of the proximal esophageal pouch in babies born with esophageal atresia varies in location from the low cervical region to the upper third of the mediastinum, but the relevance of this finding to the VATER association is not known. The initial radiographs and hospital records of 42 newborns with esophageal atresia and a distal tracheoesophageal fistula treated in the Newborn Special Care Unit of the Yale-New Haven Hospital between 1977 and 1986 were examined to (1) determine the location of the base of the upper esophageal pouch on its superimposed vertebral body; (2) identify coexisting VATER associated anomalies; and (3) detect the presence of vertebral, rib, or sternal anomalies. Ten of 11 babies with the upper esophageal pouch at the first thoracic vertebra or above had additional VATER defects including vertebral, rib, or sternal anomalies. These patients also required staged repair or circular myotomy for wide gap esophageal atresia and were at greater risk of anastomotic leak, stricture, or gastroesophageal reflux requiring fundoplication. High proximal pouch esophageal atresia accompanied by vertebral, rib, and sternal anomalies constitutes a heretofore unrecognized high risk group with the VATER association.

Abnormalities, Multiple↗
PubMed1989

A case of VACTEL syndrome with antenatally diagnosed duodenal atresia.

A rare case of VACTEL syndrome with antenatally diagnosed duodenal atresia is reported. We performed one-staged radial surgery for the esophageal atresia with tracheoesophageal fistula and duodenal atresia. The prognosis of VACTEL syndrome with duodenal atresia is very poor. This is the first reported case cured operatively.

Abnormalities, Multiple↗
PubMed1996

Urologic problems in anorectal malformations. Part 2: functional urologic sequelae.

A consecutive series of 90 children with anorectal malformations was reviewed for urologic problems related to lower urinary tract dysfunction. Neurogenic bladder-sphincter dysfunction was seen in 22 patients (24%), all but one of whom had sacral agenesis. Vesicoureteral reflux was present in 60% of the patients with dysfunction, and 32% had reflux nephropathy. Urinary incontinence was present in 91% of the patients who had bladder-sphincter dysfunction. However, the management of bladder-sphincter dysfunction and urinary incontinence was not as straightforward as for patients with myelodysplasia because the parents were more reluctant to accept the therapeutic measures. It was particularly difficult to introduce clean intermittent catheterization (CIC), especially in older patients, because genital and urethral sensation often was undisturbed. Only if CIC had been started in the neonatal period or early infancy were there no problems with acceptance and parental compliance. The authors emphasize the importance of urodynamic testing of neonates and infants who have an anorectal malformation and associated sacral agenesis in identifying those who have neurogenic bladder-sphincter dysfunction. Consequently, patients with lower urinary tract dysfunction should receive prompt treatment, including CIC if necessary, to prevent or reduce secondary urologic morbidity, especially loss of renal function.

Anus, Imperforate↗
PubMed1996

Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies.

Thirty-three adolescents (aged 12 to 20 years; median, 15) with a corrected low (n = 17) or high (n = 16) anorectal anomaly were assessed using anorectal physiological examination, semistructured interviews [Child Assessment Schedule [CAS]), and questionnaires (Child Behavior Checklist [CBCL], Youth Self-Report [YSR]). Seven patients, all of whom had low malformations, were totally continent. Twenty-three (70%) had persistent dysfunction with staining (n = 12) or intermittent/constant soiling (n = 11). Twenty-four (73%) had flatus incontinence. Fecal incontinence correlated negatively with anal canal resting pressure (r = - .58, P = <.001) and squeeze pressure (r = -.54, P < .01). Three adolescents had a permanent colostomy. Nineteen patients (58%) met the criteria for a psychiatric diagnosis, and impairment of psychosocial function was found in 24 (73%). The degree of psychosocial impairment correlated significantly with fecal incontinence (F = -.37, P < .05) and flatus incontinence (r = -.49, P < .01). Continence of flatus correlated significantly with mental health symptom scores (YSR: r = .52, P < .01; CAS:r = .53, P < .01). The findings indicated that, in addition to soiling, staining as well as fear of flatus are associated with psychiatric and psychosocial dysfunction among patients with anorectal malformations. Optimal treatment of patients with low and high anorectal anomalies requires somatic and psychological care and follow-up into adulthood.

Adaptation, Psychological↗
PubMed1996

Coloplasty for congenital short colon.

Seventy-two patients with complete short colon (CSC) were treated at the authors' institution between 1971 and 1994. Initially, one-stage coloplasty with abdominoperineal pull-through was performed in 10 neonates, with a 50% survival rate. The subsequent 62 patients had staged management in which a window colostomy was performed at the time of presentation. Of the 50 survivors in this group, 20 had coloplasty with a abdominoperineal or sacroabdominoperineal pull-through by June 1994. A protective ileostomy was done at the time of coloplasty in 10 patients, and was closed 6 to 12 weeks later. Two of the 20 patients who had staged reconstruction died because of complications; the others recovered well. The overall survival rate after coloplasty was 76.7%. Eighteen of the 23 survivors have had follow-up for up to 8 years. They have shown normal growth and good continence and have been free of significant long-term complications. The other 30 patients are awaiting definitive surgery. A staged management plan is advocated for complete short colon because it provides consistent results and good quality of life.

Anus, Imperforate↗
PubMed1996

Innervation patterns of the rectal pouch and fistula in anorectal malformations: a preliminary report.

The innervation patterns of the rectal pouch and fistula of 52 children with anorectal malformations were investigated. Posterior sagittal anorectoplasty was used for intermediate and high anomalies; for the latter it was combined with an abdominal approach. Perineoproctoplasty was performed for low anomalies. The specimens were investigated by acetylcholinesterase staining, lactate dehydrogenase, and succinyldehydrogenase reaction. They consisted of fistula material only in 23 patients and of parts of the rectal pouch in 29. Fourty-four patients (84.6%) had follow-up, and information of bowel movements and continence was obtained after a mean of 3.3 years. Abnormal innervation patterns were found in 96% of the specimens. All fistulas were found to be aganglionic, including the adjacent part of the rectum involving the internal sphincter equivalent. Classical aganglionosis was found in 31% of the rectal pouch specimens, hypoganglionosis in 38%, neuronal intestinal dysplasia (NID) type B in 14%, and dysganglionosis in 10%. All patients with severe constipation or soiling at the time of follow-up had some histopathological correlation. Of the 25 patients for whom the specimens had consisted of rectal pouch material, nine (31%) had severe constipation. All four patients with a low-type malformation who had follow-up and pathological innervation patterns in the rectal pouch suffered from severe constipation; this was true of only five of the 19 children with intermediate or high malformations (P < .05). However, numerous pathological innervation patterns had been identified in patients who had normal bowel function at the time of follow-up. It is concluded that partial denervation of the rectum may not be the only cause in the pathogenesis of constipation after posterior sagittal anorectoplasty and perineoproctoplasty. The high frequency of neuronal intestinal malformations in the rectal pouch may be related to the higher frequency of bowel disturbances in patients with low malformations, in whom the resection was less radical. However, the clinical course is not necessarily related to specific histopathological findings. In the authors' opinion, the recommendation to use the distal rectal pouch and parts of the fistula in the reconstruction of anorectal malformations should be reconsidered.

Anus, Imperforate↗
PubMed1997

Do children with repaired low anorectal malformations have normal bowel function?

PURPOSE: The authors' aim was to compare bowel function in patients who had undergone repair of a low anorectal malformation with that of normal healthy children. METHODS: The bowel function of 40 patients (29 boys, 11 girls; median age, 7; range, 3 to 13) with low anorectal malformations was evaluated by a multivariate scoring method based on a questionnaire. All patients were toilet trained for defecation and micturition. They were also evaluated clinically, and the outcome was graded as excellent (normal bowel function), good (no or minor social limitations), fair (marked social limitations), or poor (total incontinence). Fifty-four healthy children with a similar age and gender distribution were used as controls. RESULTS: Twenty-one patients (52%) with normal bowel function had continence scores within the range of the scores of healthy children (patients, 19.3 +/- 0.7 v controls, 19.1 +/- 1.3). Fifteen patients had a good clinical outcome. The mean score in this group was 16.3 +/- 2.4. Four patients with a fair outcome had a mean score of 10.5 +/- 2.9. Constipation requiring dietary or medical treatment was reported by 17 patients (42%) and four of the controls (7%). Daily soiling caused by fecal overflow was reported by four patients (10%) and none of the controls. None of the patients had urinary incontinence; occasional wetting was found in 27% of the patients and 22% of the controls (P = .56). CONCLUSION: Only half of the children with a low anorectal malformation have age-appropriate normal bowel function. Long-term follow-up of these patients to manage the main functional problem, constipation, is warranted.

Anus, Imperforate↗
PubMed1997

Dysplastic nitrergic neurons in the rectum of a patient with rectal ectasia.

We present a histochemical study of resected colon from a 13-year-old boy diagnosed with rectal ectasia. Laminar preparations and sectioned tissue of rectum were assayed histochemically for nitric oxide (NO) synthase activity by reducing nitro blue tetrazolium salt in the presence of the cofactor NADPH. Tissue preparations displayed intensely labelled neurons and fibers throughout the gut wall. Laminar preparations of Meissner's plexus showed a hyperplasia of ganglia and NO-related neurons throughout the length of the resected rectum compared with normal bowel. Sectioned tissue of the Auerbach's plexus demonstrated a normal number of ganglia and NO-related neurons. As well, the ectatic bowel showed a proliferation of nerve fibers in keeping with the degree of circular smooth muscle hypertrophy. This proliferation may represent a reactive phenomenon secondary to the functional obstruction. The NO histochemical technique may form the basis of further investigations in defining the cause of this functional obstruction.

Adolescent↗
PubMed1998

Abnormal colonic interstitial cells of Cajal in children with anorectal malformations.

BACKGROUND/PURPOSE: Constipation is a frequent functional problem in children after operation for all types of anorectal malformations. Although this has been assumed to be caused by hypomotility of the rectosigmoid colon, recent studies have demonstrated generalized colonic hypomotility in children with high or intermediate anomalies. The cause of this disorder is unknown. The aim of this study was to determine whether the observed colonic hypomotility seen in patients with anorectal malformations was caused by defects in distribution or density of interstitial cells of Cajal (ICC), recently identified as 'intestinal pacemaker cells'. METHODS: Colostomy specimens from 12 patients with high anorectal anomalies (ARM group; age 0 to 14 months) were compared with colostomy specimens from five control patients with nonmotility-related gastrointestinal pathology (age, 1 to 4 months). Specimens were immunohistochemically labelled with antibodies to PGP9.5, a marker for neural tissue, and antibodies to c-kit, a recently characterized marker for interstitial cells of Cajal (ICC). RESULTS: Ganglion cells were present in all histological specimens. Abnormalities in distribution and density of c-kit-positive ICC were present in 7 of 12 ARM patients. In two ARM patients, ICC were completely absent, and in five patients, ICC density was markedly reduced in circular muscle and at the submucosal border of circular muscle. Only five ARM patients had a distribution of ICC similar to that of control patients. CONCLUSION: Defects in the population of intestinal pacemaker cells may underlie the colonic hypomotility seen in high anorectal malformations and hence may contribute to refractory constipation.

Anus, Imperforate↗
PubMed1999

An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus.

The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. Herein, clinical evaluation and embryological review are made to explain the concomitant occurrence of these rare malformations.

Abnormalities, Multiple↗
PubMed1999

Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies.

BACKGROUND/PURPOSE: This report describes the results of a group study of the Japanese Study Group of Anorectal Anomolies (JSGA) to determine the relative incidence of specific types of anorectal anomaly in Japan, and includes discussion of rectourethral fistula regarding the relationship between the levels of the fistula and blind end of the rectum, low type deformity, rare types, and associated anomalies. METHODS: A total of 1,992 patients (1,183 boys and 809 girls) registered from 1976 to 1995 were analyzed. RESULTS: High-type deformities accounted for 26.0% of cases, intermediate 10.7%, low 57.2%, miscellaneous 4.5% and unclassified 1.8%. The most frequent deformity was male anocutaneous fistula (n = 364), followed by male rectourethral fistula (n = 333), and female anovestibular fistula (n = 241). There were 42 rectovesical fistulas in boys and 93 rectocloacal fistulas in girls. Covered anus complete occurred at the same frequency (10.1% of low deformities) as covered anal stenosis. In rectourethral fistula, the blind end of the rectum lay at or above the level of the P-C line in 40.3% of cases, at or above the M line in 39.6% and at the vicinity of the I line in 20.2%, respectively. There was no parallel relationship between the site of the fistula opening and the level of the rectal pouch. The overall incidence of patients having one or more associated anomalies was 45.2%: 70.6% in high deformity, 60.7% in intermediate, and 31.3% in low. The rate of association of Down's syndrome with deformities without fistula (40.3%) was significantly higher than with deformities with fistula (0.3%). CONCLUSIONS: Rectovesical fistula and covered anus complete were not infrequent deformities in this series. We consider that at least 20% of rectourethral fistula should be categorized as intermediate or low deformity from the viewpoint of the position of the rectal pouch. A significant preponderance of Down's syndrome in the deformities without fistula suggests that further investigation of associated anomalies in comparision with other congenital diseases may provide insights into the pathogenesis of anorectal malformation in the field of molecular genetics.

Anal Canal↗
PubMed1999

Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?

Two patients presented as full-term baby girls with anorectal and genital malformations with extensive perineal hemangiomas. The first patient had a vestibular anus with a perineal hemangioma involving the bladder, rectal, and vaginal walls. Skin ulcerations required a transverse loop colostomy for wound care. The vulva, urethral opening, and clitoris were deviated to the left, labia minora were absent, and the labia majora were abnormal. The second patient had an anus displaced anteriorly and deviated to the right. The external anal sphincter was hypertrophic on the left and atrophic on the right. Rectal examination showed agenesis of the right levator ani and a dentate line located at the skin level. She had a large perineal, sacral, vaginal, pararectal and retroperitoneal hemangioma and developed extensive skin ulcerations. She had only a hemiclitoris located to the left of the midline, near absence of labia minora, and hypertrophied labia majora. The urethra was displaced to the left and opened in the vestibule. Both patients had a spinal malformation (one with tethered cord and one with spina bifida) and a normal karyotype. Steroids and interferon allowed near-complete resolution of hemangiomas in both patients. The authors were impressed by the similarity of these two cases and could not find any previous description of this association.

Abnormalities, Multiple↗
PubMed1991

Prune belly syndrome in females: a triad of abdominal musculature deficiency and anomalies of the urinary and genital systems.

We describe seven female patients with deficient abdominal wall musculature and urinary tract and genital anomalies that represent the female equivalent of the prune belly syndrome. Urethral atresia, uterine duplication, and anorectal anomalies occurred frequently. The perinatal mortality rate was high; of the four surviving patients, renal failure developed in two and renal transplantation was required. The analysis of these cases suggests that urethral obstruction is an important factor contributing to the development of the prune belly syndrome in females.

Abdominal Muscles↗