Male cloaca malformation: rare variant of anorectal malformation.

PURPOSE: Experience with male cloaca (MC), a single opening in perineum for passage of urine and meconeum is described. METHODS: Cases of MC were ambispectively studied, prospectively from July 2007 to April 2015 and retrospectively for last three decades. RESULTS: Seven cases of MC were identified, between the ages of newborn-4 years (median 10 days). Two missed cases underwent a colostomy, posterior sagittal anorectoplasty, and urethroplasty. Two cases underwent perineal urethrostomy and anoplasty followed by urethroplasty. In one case, part of the rectal wall was used to form urethral tube and urethrostomy. For three recent cases, posterior sagittal anorectourethroplasty was done with mobilization of rectal pouch and common channel, separation of common wall between the urethra and rectum, urethroplasty varying from 1.5 to 3 cm, perineal body reconstruction, perineal urethrostomy and anoplasty. Follow-up of 6 patients varied from 3 months to 23 years. One case is lost to follow-up. Three patients have completed repair. Complications included a discharging sinus and a urethral fistula in one case each. One patient died while awaiting urethroplasty. Two patients are awaiting formal urethroplasty. CONCLUSION: With familiarity of varying anatomy of MC, early recognition can avoid a neonatal colostomy in selected patients.

Management options of congenital pouch colon--a rare variant of anorectal malformation.

PURPOSE: Congenital pouch colon (CPC) was analysed for anatomical variations and surgical options. METHODS: Records of CPC patients managed between 1999 and 2014 were studied. CPC was classified as complete (CCPC) and incomplete (ICPC) pouch. RESULTS: Of 400 cases of high anorectal malformations, 68 cases were CPC (17%). Male:female ratio was 2:1. Fistulous communication was colovesical, colocloacal, colovaginal and absent in 42, 15, 8 and 3 cases. ICPC and CCPC was 48 (70%) and 20 (30%). In neonatal period, proximal/end colostomy (31), ileostomy (6), pouch excision with abdominoperineal pull-through (18 cases) and coloplasty with end colostomy (7) were done. 6 presented as infants including 3 referred cases of CCPC with a window colostomy. Definitive surgery was completed in 56. Severe colonic dilatation after coloplasty was noted in 5, requiring excision of coloplasty segment in 2. Histopathology of excised pouch (45) showed muscle layer disorganization, widened sub mucosa, prominent vasculature and mature and immature ganglion cells, with no hypertrophy of nerve fibres. Diarrhoea and faecal incontinence (soiling) were more frequent in patients with CCPC versus ICPC. Six neonates with CCPC died. Six are awaiting definitive surgery. CONCLUSION: CPC had 8.8% neonatal mortality. Pouch excision and definitive procedure are feasible in neonates with CPC. Coloplasty in CCPC may result in postoperative colonic dilatation.

European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations.

The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup.

Impact of spinal dysraphism on urinary and faecal prognosis in 25 cases of cloacal malformation.

OBJECTIVE: Urinary and faecal continence are key challenges goal of cloacal malformation management. Most well-known prognostic factors are the length of common channel (CC) and the presence of a sacral defect, but the impact of associated spinal dysraphism is less well documented. The aim of this study was to investigate the impact of different types of dysraphism on urinary and faecal continence in this patient population. MATERIALS AND METHODS: From 1991 to 2011, charts and office notes of 25 patients with cloacal malformation were retrospectively reviewed. At last clinic visit, urinary and faecal continence status according to Krickenbeck criteria were correlated with the length of CC, the presence of a sacral defect (sacral ratio), and the presence of different types of spinal cord dysraphism using magnetic resonance imaging (MRI) and Fisher's exact test. RESULTS: Mean follow-up was 8 years (4 months-21 years). The sacral ratio was abnormal (below 0.74) in 18 cases out of 25 (72%). MRI review showed normal spinal cord in eight out of 23 cases (Group 1), spinal cord anomaly in 15 out of 23 cases (65%) including nine cases of tethered cord complex (Group 2) and six cases of a short spinal cord (Group 3). While statistical analysis showed a difference regarding urinary prognosis between the groups (p=0.005), no significant difference was found regarding faecal prognosis. None of the six patients with short spinal cord were continent for both urinary and faecal prognosis. CONCLUSIONS: This is the first study, which highlights the impact of different types of spinal dysraphism on functional outcome in patients with cloaca. Short spinal cord seemed to carry the worst prognosis. A prospective study with a larger series is mandatory to confirm these preliminary results.

Surgical treatment of anorectal malformations.

The goal of surgery for anorectal malformations (ARM) is to achieve good bowel, urinary, and sexual functions, as well as the ability for children to become healthy adults. Various surgical procedures and surgical management protocols have been explored or devised by pediatric surgeons. These are described in this review. Making a correct type classification by invertography, fistelography and urethrography in the neonatal period allows pediatric surgeons to select an appropriate surgical strategy. Surgery for low-type malformations is principally neonatal perineoplasty, while that for intermediate- or high-type malformations is colostomy, followed by a pull-through operation during infancy. Posterior sagittal anorectoplasty or laparoscopy-assisted surgery has recently been accepted as alternative procedures. Fecal incontinence represents a devastating problem that often prevents a patient from becoming socially accepted and may cause serious psychological sequelae. One-third of adult patients with high- or intermediate-type malformations occasionally complain of fecal incontinence after surgery. Most patients with ARM have normal urinary function if they do not have urinary tract or sacral anomalies. These associated anomalies also influence the prognosis for sexual function, especially in males. Some female patients have experienced normal vaginal delivery and had children. In patients with cloacal malformation, however, fertility or sexual problems are also often present. Based on this information, it is clear that only well-planned and systemic treatments can provide a good functional prognosis after making a correct classification in the neonatal period.

Anomalies associated with anorectal malformations according to the Krickenbeck anatomic classification.

PURPOSE: We evaluated the incidence of congenital anomalies associated with anorectal malformations (ARMs) in relation to the anatomic type of ARM as defined by the Krickenbeck classification. METHODS: We reviewed 99 children with ARM in our institution from 2002 to 2011. Data were collected on patient demographics, type of ARM, and associated congenital anomalies, which were categorized according to organ systems. Statistical analysis was performed for comparison between groups using 'perineal fistula' as the base group. RESULTS: There were 62 (63%) male patients. The majority had perineal fistulas (35, 35%). Seventy-seven (78%) had at least one associated malformation. The most frequent malformations seen were genitourinary (28, 28%) and spinal anomalies (26, 26%). Those with rectovesical fistula had the highest proportion of genitourinary malformations (Odds Ratio [OR], 41.3; 95% confidence interval [CI], 4.7-363.4). Those with cloaca (OR, 49.5; 95% CI, 3.4-718.9) and those with rectovestibular fistula (OR, 12.4; 95% CI, 2.3-65.6) were most likely to have major spinal abnormalities, with tethered cord seen in all groups. The rectovestibular group was also most likely to have other associated malformations (OR, 8.6; 95% CI, 2.2-32.8). CONCLUSION: More than 75% of children with anorectal malformation have other associated malformations. Genitourinary anomalies are the most common. Major spinal anomalies are seen in all groups, affecting nearly half of those with rectovestibular fistula and those without fistula. The incidence of associated malformations in the rectovestibular group is higher than described in the literature. Thorough systematic evaluation of all infants with ARM should be done regardless of type of ARM.

Long-term disease-specific quality of life in children and adolescent patients with ARM.

BACKGROUND: The main aim of the present study was to investigate how fecal incontinence might influence different aspects of quality of life (QOL) in children and adolescents with anorectal malformations (ARMs). We considered both the influence of fecal incontinence at time 1 of the study and the influence of fecal incontinence at time 2 (4 years later) on QOL measured at time 2. METHODS: A total of 175 parents from the Italian Parents' and Patients' Association for Anorectal Malformations completed a questionnaire about fecal incontinence in their children at time 1 of the study. Four years later, 97 of these parents completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire. Patient ages ranged from 4 to 17 years. Quality of life areas from the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire were considered as outcome variables in a hierarchical regression analyses where fecal incontinence at time 1 and at time 2 served as predictors. RESULTS: The principal findings indicated that fecal incontinence at time 2 significantly predicted constipating diet, presence of diarrhea, urinary continence, social functioning, emotional functioning, body image, and physical symptoms, also when severity of the malformation was taken into account. CONCLUSIONS: It is extremely important that pediatric surgeons continue to promote effective bowel management programs and that they work with other specialists and support associations to offer emotional and psychological support to patients with ARM and their families.

Imperforate anus: determination of type using transperineal ultrasonography.

OBJECTIVE: This study was designed to assess the usefulness of transperineal ultrasonography (US) for the determination of imperforate anus (IA) type. MATERIALS AND METHODS: From January 2000 to December 2004, 46 of 193 patients with an IA underwent transperineal US prior to corrective surgery. Sonographic findings were reviewed to identify the presence of internal fistulas and to determine "distal rectal pouch to perineum (P-P)" distances. IA types were determined based on the sonographic findings, and the diagnostic accuracy of transperineal US was evaluated based on surgical findings. RESULTS: Of the 46 patients, 17 patients were surgically confirmed as having a high-type IA, three patients were confirmed as having an intermediate-type IA and 26 patients were confirmed as having a low-type IA. The IA type was correctly diagnosed by the use of transperineal US in 39 of the 46 patients (85%). In 14 of the 17 patients with a high-type IA, internal fistulas were correctly identified. All cases with a P-P distance > 16 mm were high-type IAs and all cases with a P-P distance < 5 mm were low-type IAs. CONCLUSION: Transperineal US is a good diagnostic modality for the identification of internal fistulas in cases of high-type IA and for defining the IA level.

Ultrasonography of imperforate anus in neonate: an approach correlated with current surgical concepts.

Neonates with an imperforate anus pose a challenge to those responsible for diagnosing and treating the congenital abnormality. Early assessment and accurate diagnosis of the type of imperforate anus are essential for determining the appropriate surgical procedure. Transperineal ultrasonography (US) can be used to identify the internal fistula and to define the type of imperforate anus. Thus, US represents an useful noninvasive imaging modality for assisting in the diagnosis and appropriate management of this disease. We will describe this imaging technique and present different types of illustrative scans of an imperforate anus.

High and intermediate imperforate anus: psychosocial consequences among school-aged children.

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.

Colostomy for anorectal anomalies: high incidence of complications.

PURPOSE: The aim of this study was to characterize the type and incidence of complications related to colostomy formation in newborn infants with anorectal anomalies. METHODS: The authors reviewed a 5-year (1994 to 1999) experience of a single institution in the management of neonates with high and intermediate anorectal anomalies who required colostomy at birth. Patients with colostomy still in place have been excluded from the study to maximize the chances of detecting colostomy-related complications. RESULTS: There were 80 neonates with anorectal malformations, of whom, 49 (31 boys and 18 girls) were included in the study. The site of colostomy was sigmoid colon (n = 32), transverse colon (n = 7), and descending colon (n = 10). Thirty-nine colostomies were loop, and the remaining 7 were divided. The median birth weight was 2.96 kg (range, 1.46 to 3.88). The age at colostomy formation was 2 days (range, 1 to 210). Mechanical complications related to colostomy formation were observed in 16 infants (32%) with 3 infants having more than 1 mechanical complication. These included prolapse in 8 (50%), intestinal obstruction (adhesions, intussusception, and volvulus) in 7 (44%), and skin dehiscence in 3 (19%). One neonate had necrotizing enterocolitis (NEC) after colostomy formation. Urinary tract infection was observed after colostomy in 14 infants (29%). The incidence of urinary tract infection was not higher in infants who had loop colostomy (11 of 39, 28%) compared with infants who had divided colostomy (3 of 10, 30%). There were no differences in the incidence of colostomy-related complications and urinary tract infection between male and female infants. There were no deaths in this series. CONCLUSIONS: Formation of colostomy for anorectal anomalies should not be considered a minor procedure. In our experience the incidence of complications after colostomy formation is high. The incidence of urinary tract infections does not seem to be affected by the type of colostomy performed.

Biopsychosocial treatment of defecation problems in children with anal atresia: a retrospective study.

In a retrospective study, we examined whether multidisciplinary treatment based on a biopsychosocial approach and carried out by a pediatric surgeon, a child psychologist, and a pediatric physiotherapist is successful in reducing defecation problems (incontinence and/or constipation) in children with operated anal atresia (AA) (mean age 6.9 +/- 4.01 years). A second question was whether this treatment is successful in young children aged 2-5 years. The multidisciplinary approach consisted of standard medical treatment and a behavioral program to teach children and their parents adequate defecation behavior including an adequate straining technique. Forty-three children aged 2-16 years were included: 27 boys and 16 girls with AA, of whom 26 had high or intermediate and 17 low AA. Besides continence and constipation, defecation behavior and straining technique were evaluated. The children improved significantly during treatment in all aspects of defecation. No differences in effect of treatment were found between young children (2-5 years) and older ones, so this treatment seems to be equally effective in both age groups. This study demonstrates that both somatic and behavioral factors contribute to the persistence of chronic defecation problems. It is concluded that treatment of these problems in patients with operated AA should include behavioral modification techniques.

Immediate and long-term results of surgical management of low imperforate anus in girls.

BACKGROUND: The majority of girls with imperforate anus are reported to have a malformation of the low variety. Despite this, much of the literature has focused on the more complex, high lesions. METHODS: This study reviews our experience with 44 girls with low imperforate anus from a 22-year period. RESULTS: The incidence of associated anomalies was 61%, which is higher than generally reported. All patients in the study had anal fistulae. Fifty-seven percent had perineal fistulae, 23% had fourchette fistulae, and 20% had vestibular fistulae. Cutback anoplasty was performed in 55%, Potts transfer anoplasty was used in 27%, and 18% of patients were treated with either limited posterior sagittal anorectoplasty or anterior sagittal anorectoplasty. Surgical complications were uncommon. Long-term follow-up was carried out by telephone survey. This showed 89% of the girls to be successfully toilet trained. However, 47% of patients experience at least occasional soilage or episodic fecal incontinence. CONCLUSIONS: Low imperforate anus can be successfully treated using a variety of procedures without colostomy. Most girls with low imperforate anus are successfully toilet trained, but problems with continence persist in a significant number of these patients.

The various types of anorectal fistula in male imperforate anus.

The purpose of this paper is to provide a review of the anorectal fistulas occurring in male imperforate anus, with a suggested classification based on the site of termination of the fistula, namely, the bladder, the urethra, and the perineum. The fistulas included in these categories are discussed in some detail, with reference to previous cases or descriptions in the literature and with some personal observations.

Results in the treatment of anorectal malformations with special regard to the histology of the rectal pouch.

The results of surgery for anorectal malformation (ARM) in 536 children treated between 1962 and 1993 are presented. Before 1985, patients underwent an abdominoperineal pullthrough for high and intermediate type of ARM, whereas cut-back procedures or perineoproctoplasty were performed in low type. Since 1985, we have changed our policy and performed a modified posterior sagittal anorectoplasty (PSARP) for intermediate type of ARM, eventually combined with an abdominal mobilization for high type. Perineoproctoplasty was reserved for low type of ARM. Data of 143 patients of Group 1 and 85 patients of Group 2 were available for follow-up. Continence was compared using a clinical score. Good or fair continence was found in 82% of patients operated on before 1985 (low type 85% good, 15% fair, intermediate type 17% good, 50% fair, high type 12% good, 37% fair), comparing to 93% in children treated after 1985 according to the new regimen (low type 88% good, 6% fair, intermediate type 59% good, 35% fair, high type 43% good, 47% fair). Liquid stools and inability to retain bowel contents were the main problem in the older series, whereas incontinence could often be attributed to constipation with overflow incontinence in the recently treated group of patients. Analysis of the innervation of fistula and distal rectal pouch in a prospective study comprising 40 of our most recent patients showed normal innervation in only 5% of patients, whereas 66% had neuronal intestinal malformations (NIM) including aganglionosis, NID and hypoganglionosis.(ABSTRACT TRUNCATED AT 250 WORDS)

High and intermediate imperforate anus: results after surgical correction with special respect to internal sphincter function.

Embryologically a fistula in an anorectal malformation can be regarded as an ectopic anus. Since 1984 the so-called fistula has been saved and used as the new anal canal in the surgical reconstruction of 48 patients with high or intermediate imperforate anus. A positive rectoanal inhibitory reflex indicating internal sphincter function was recorded in 32 of 43 patients investigated with anorectal manometry. These patients showed significantly better anal continence. It is concluded that there is an internal sphincter "anlage" in the fistulous connection from the bowel to the urogenital tract. Internal sphincter function can be obtained in the majority of the patients, which seems advantageous for their anal function.

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)

Surgery of anorectal anomalies.

This article discusses the disparate views regarding sphincteric anatomy, both normal and abnormal, and describes preoperative procedures for and operative approaches to resolving anorectal anomalies.