Can we expect a favorable outcome after surgical treatment for an anorectal malformation?

    Can we expect a favorable outcome after surgical treatment for an anorectal malformation? So Hyun Nam, Dae Yeon Kim, Seong Chul Kim PII: DOI: Reference:

S0022-3468(15)00562-X doi: 10.1016/j.jpedsurg.2015.08.048 YJPSU 57346

To appear in:

Journal of Pediatric Surgery

Received date: Revised date: Accepted date:

11 December 2014 21 July 2015 17 August 2015

Please cite this article as: Nam So Hyun, Kim Dae Yeon, Kim Seong Chul, Can we expect a favorable outcome after surgical treatment for an anorectal malformation?, Journal of Pediatric Surgery (2015), doi: 10.1016/j.jpedsurg.2015.08.048

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Can we expect a favorable outcome after surgical treatment for an anorectal malformation?

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So Hyun Nam, M.D., Ph.D.a, Dae Yeon Kim, M.D., Ph.D.b, Seong Chul Kim, M.D.,

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Ph.D.b

a

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Division of Pediatric Surgery, Department of General Surgery, Dong-A University Hospital b Department of Pediatric Surgery, University of Ulsan College of Medicine and Asan Medical Center

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Corresponding author: Seong Chul Kim, M.D., Ph.D. Address: (138-736) Asan Medical Center, 388-1, Poognap-dong, Songpa-gu, Seoul, Korea E-mail: [email protected] Tel: 82-2-3010-3498 Fax: 82-2-3010-6863

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Abstract Background: The aim of this study was to retrospectively review the classification, surgical experience, and the functional outcome of anorectal malformations (ARMs) according the type of ARM. Methods: A total of 311 children (M:F = 200:111) who underwent surgical treatment for ARM between 1990 to 2011 were reviewed. Functional outcomes were evaluated using the Krickenbeck classification. The mean follow-up period was 112.2 ± 76.7 months (range: 36.8-414.9 months). Results: In the male patients, 90 (45%) had perineal fistulas, 60 (30%) had urethral fistulas, and 7 (3.5%) had rectovesical fistulas. There were 17 cases of ARM without a fistula (8.5%), and we couldn’t determine the type of fistula in 26 boys (13%) because of follow-up losses and death. In the female patients, 34 (30.6%) had perineal fistulas, 71 (64%) had rectovestibular fistulas, and 2 (1.8%) had rectovaginal fistulas. Four patients did not have a fistula (3.6%). For 264 patients, we did anoplasty (121 cases), fistula transposition (14 cases), and posterior sagittal anorectoplasty (PSARP, 129 cases). We found that 224 (84.8%) patients showed voluntary bowel movements. The overall rate for constipation was 30.7% and for soiling was 6.5%. The continence outcome was good for 82.2% of children, fair for 2.7%, and poor for 15.2%. For rectovestibular fistulas, constipation was higher in the perineal operation group, but the continence outcome was similar. Conclusion: Through a review of 20 years’ experience, an accurate diagnosis based on the Krickenbeck classification and operations following the principles of PSARP are crucial to achieve a good functional outcome in children with an ARM.

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Key words: anorectal malformation, imperforate anus, posterior sagittal anorectoplasty, constipation, continence

ACCEPTED MANUSCRIPT Introduction Anorectal malformation (ARM) is a common congenital disease occurring in 1:5000

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births. The development of ARM is believed caused from the lack of recanalization

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during the 9th week of gestation and ectopic positioning of the anal canal opening in the cloaca. (1) However, ARM comprises a wide spectrum of diseases with various

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presentations and associated anomalies. In 2005, an international meeting was

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conducted in Krickenbeck to agree on a new simplified classification for ARM. According to that classification, the major clinical groups include perineal fistula, rectourethral fistula (to the prostatic and bulbar urethra), rectovesical fistula, vestibular fistula, cloaca, no fistula, and anal stenosis. Rare/regional variants were classified as

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pouch colon, rectal atresia/stenosis, rectovaginal fistula, H-type fistula, and others. (2) After the introduction of posterior sagittal anorectoplasty (PSARP) in 1980, the

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procedure has become the predominant approach to correct ARMs, and their functional

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outcome has been much improved. Still, constipation and incontinence are major concerns that affect the quality of life of affected patients.

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In this study, we retrospectively reviewed the ARM classification, surgical experience, and functional outcomes according the type of ARM in children based on our clinical experience over two decades.

ACCEPTED MANUSCRIPT Methods Subjects

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We retrospectively reviewed the medical records of children who were treated for

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ARM between January 1990 and December 2011 at Asan Medical Center, Seoul, Korea. We identified the type of fistula, the type of surgery, any associated anomalies, surgical

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complications, and the functional outcomes in each of these patients. We excluded 16

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cases of persistent cloaca, 13 cases of Currarino syndrome, 4 cases of H-type fistula, and 2 cases of cloacal exstrophy because of the small number of these cases and a limited follow-up period.

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Diagnosis and Surgical Method

After diagnosis of an ARM, all patients were evaluated to find associated anomalies. It abdomino-pelvic

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included

ultrasonography,

echocardiography,

and

spine

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ultrasonography. Magnetic resonance imaging (MRI) for the spine was required if anomalies were detected on ultrasonography. When an ARM with a perineal fistula was

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noted, we performed an anoplasty within 3 days of birth. Anoplasty comprises cut-back anoplasty and Y-V anoplasty. If there was no meconium passage within 36 hours or meconium passage via an external urethral orifice, we performed a three-staged operation, including a colostomy, PSARP, and colostomy closure. The fistula location was identified through distal colograms via a colostomy. For a rectovestibular fistula there are three surgical options: a perineal operation including anoplasty and fistula transposition in the neonate, a one-stage PSARP after a widening of the rectovestibular fistula in infants, or a three-staged operation including a colostomy, PSARP, and colostomy closure. (3)

ACCEPTED MANUSCRIPT Functional outcomes To evaluate functional outcomes, we used the Krickenbeck classification. (2) We

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collected data related to the presence of voluntary bowel movements, frequency of

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soiling, and management of constipation. The mean follow-up period was 112.2 ± 76.7 months (range: 36.8-414.9 months). The patients were divided into three groups

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according to the age of evaluation: <6 years old, 6-12 years old, and >12 years old.

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Voluntary bowel movements (VBM) were defined as an urge to defecate, the capacity to verbalize this feeling, and the ability to hold the bowel movement. We defined constipation to be present if the patient had no bowel movement over 48 hours. Pena defined overflow pseudoincontinence as a soiling in a constipated patient who, once

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treated adequately with laxatives, has voluntary bowel movements and stops soiling. (4) We recorded the frequency of soiling except overflow pseudoincontinence.

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A good outcome was defined as a voluntary defecation with no/occasional soiling and

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no/light constipation (controlled with diet or laxatives). A fair outcome indicated voluntary bowel movements with soiling grade 1 or 2 and constipation grade 1 or 2.

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Poor results included patients without voluntary defecation, with soiling grade 2 or 3, and any degree of constipation. (2, 5) The patients who underwent regular enemas were included in the ―poor‖ group. We described functional outcomes according to the type of fistula. We analyzed categorical variables using the chi-square test and Fisher’s exact test with the statistical software SPSS (version 15 for Windows, SPSS Inc., Chicago, IL). Statistical significance was assigned to p-values ＜0.05.

ACCEPTED MANUSCRIPT Results 1. Patient characteristics

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A series of 311 children was enrolled in this study, comprising 200 male and 111

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female (M:F = 1.8:1) patients. Premature babies composed 13.2% (41) of these patients. Fifty-eight (18.6%) babies had a birth weight <2.5 kg, and 10 (3.2%) babies were <1.5

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kg. Associated anomalies were present in 125 (40.2%) patients, and most associated

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anomalies were cardiovascular (39/125) or genitourinary (28/125). Sacral anomalies were found in 11 (4.1%) patients, and the VATER association of anomalies was present in 18 (5.8%) patients.

The type of ARM in the boys in our cohort included perineal fistulas in 90 (45%),

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rectourethral fistulas in 63 (31.5%, including 58 bulbar fistulas and 5 prostatic fistulas), and rectovesical fistulas in 4 (2%) patients. There were 17 cases of ARM in males

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without a fistula (8.5%), and we could not determine the type of fistula in 26 (13%)

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boys because of deaths and follow-up losses. In female cases, a perineal fistula was present in 34 (30.6%), a rectovestibular fistula was present in 71 (64%) cases, and a

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rectovaginal fistula was present in 2 (1.8%) patients. Four of the girls in our cohort did not have a fistula (3.6%; Table 1). There were 20 (6.4%) deaths during the perioperative period. The cause of death was congenital heart disease in 10, chronic lung disease in 5, sepsis in 2, neurologic anomaly in 1, acute myeloid leukemia in 1, and Smith Lemli Opitz syndrome in 1 case, respectively (Table 2). Postoperative complications were related to PSARP in 29 (9.3%) patients, including 13 with mucosal prolapse, 5 with recurrent fistula (including 4 urethral fistulas and 1 vaginal fistula), 5 with adhesive ileus, 3 with anal stenosis, 1 with small bowel perforation, 1 with leakage after the stoma repair, and 1 with necrotizing

ACCEPTED MANUSCRIPT enterocolitis. There were no complications with the colostomy in any of the children

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(Table 2).

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2. Functional outcomes

We were able to evaluate the functional outcomes for 264 patients that included 121

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cases of anoplasty, 14 cases of fistula transposition, and 129 cases of PSARP. For

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rectovestibular fistula, perineal operation was performed for 16 neonates. Eleven patients underwent one-stage PSARP after Hegar dilatation, and 32 patients underwent PSARP after a colostomy.

84.8% of these patients showed voluntary bowel movements. Voluntary bowel

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movements were present in 88.3% of the patients younger than 6 years old, 82.1% of school-aged patients, and 84.2% of the children in our study series older than 12 years.

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The overall rate for constipation was 30.7% (Grade 1: 4.5%, Grade 2: 11.0%, and Grade

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3: 15.2%) and for soiling was 6.5% (Grade 1: 2.7%, Grade 2: 3.0%, and Grade 3: 0.8%). All rectovesical and rectovaginal fistulas were accompanied by constipation. The rate of

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constipation in rectourethral fistula cases was 32.8%. The incidence of constipation decreased slightly with age (<6 years old: 37.7% vs. 6 years old12 years old: 27.5%). (Table 3) Table 4 summarizes the continence outcomes in our study series. 82.2% of the children had a good outcome, 2.7% had a fair outcome, and 15.2% had a poor outcome. Among the cases with a poor outcome, a sacral defect was detected only in three patients, and an antegrade enema was created for one patient with a rectourethral fistula. In the case of rectovestibular fistulas, constipation was higher in the perineal operation group, but the continence outcome was similar with other patients (Table 5).

ACCEPTED MANUSCRIPT Discussion The goal for treating ARM is to make an anus within the sphincter muscle complex by

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separating the rectum from urogenital tract and to gain continence without social

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impairment. The pediatric surgeon has tremendous responsibilities in these patients with regard to long-term quality of life.

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To determine the treatment, the initial examination is most important. However, some

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of exceptional cases were present in this review. We could not find a perineal sign within 36 hours for 110 of the boys in our study, and three of these showed a perineal sign after colostomy. In contrast, three of our patients revealed meconium in the urine after anoplasty. It means that a careful physical examination should be also followed

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after the first operation.

For the treatment of boys with ARM, there are no arguments for a treatment choice

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between anoplasty and PSARP. For females, there are various treatment options for a

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rectovestibular fistula with ARM. Pena preferred a three-stage operation due to complications with the one-stage operation. We have three surgical options: a perineal

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operation with anoplasty or fistula transplantation in neonates, a one-stage PSARP after widening of the rectovestibular fistula in infants, and a three-stage operation including colostomy, PSARP and colostomy closure. The benefit of the one-stage operation is the prevention of multiple operations with general anesthesia and consequently a reduction in hospital length of stay and medical costs. However sufficient bowel preparation to prevent an infection is required for the one-stage approach. Previous studies have reported no significant functional outcome differences between a one-stage or threestage operation. (6-9) In our present study, we found no significant complications with the one-stage operation. Overall, constipation was higher in perineal operation group,

ACCEPTED MANUSCRIPT but the continence outcomes were comparable between the two groups. We suggest that the surgical option for rectovestibular fistula depends on surgeon’s preference and

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baby’s general condition.

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The wide spectrum of ARM defects results in different functional outcomes and the type of ARM itself determines the prognosis. Good prognostic factors include a normal

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sacrum/spine, absence of a sacral mass, a good buttock crease, a good anal dimple, and

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certain types of ARM (perineal fistula, rectobulbar urethral fistula, rectovestibular fistula, cloaca <3 cm common channel, rectal atresia or stenosis, and an imperforate anus without fistula). (4) However, even for ARM types with a good prognosis, constipation and incontinence are inevitable problems. Although, the exact cause of

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constipation remains unknown, it was originally thought that almost all patients will have an altered sensation when it comes to stooling (1), and the perirectal dissection

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will cause a degree of denervation. (10) Patients will have an accompanying motility

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disorder, usually hypomotility. (11) It could be aggravated by a lack of a normal anal canal or deficient sphincters. Chen has previously described several precautionary

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measures for preventing constipation as follows: (a) perform an adequate colography with colostomy; (b) do not dissect more extensively than needed; and (c) keep the plane of dissection exactly at the midline. (12) Recognition of these complex and appropriate management could prevent a significant morbidity such as incontinence and megacolon. (4) Constipation is usually improved when a child reaches puberty, although the mechanisms are unclear. (13) Through our present analyses, we could observe a tendency towards decreased constipation with aging in our patient cohort. In a previous review of ARM by Pena, 75% of patients were reported to have voluntary movements, and the overall rate of constipation was 48%. (14) The

ACCEPTED MANUSCRIPT proportion of constipation in that review was reported to be specific to the type of fistula, affecting 50% of patients with a perineal fistula, 55% of patients with an

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imperforate anus without a fistula, 50% of those with a bulbar urethral fistula, and 61%

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of those with a vestibular fistula. (14) Rintala et al. observed constipation in approximately 40% of cases with low anomalies during early childhood and a 60% rate

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of constipation and 30% of soiling in patients with high anomalies during childhood.

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(15,16)

During our follow-up period, we observed that 84.8% of our patients acquired voluntary bowel movements, and 30.7% had constipation. Within the subtypes of ARM, a perineal fistula showed the lowest constipation rate (14.5%), and rectovesical and

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rectovaginal fistulas showed highest constipation rate (100%). Soiling was observed in only 6.5% of our patients who underwent PSARP for rectourethral, bladder neck, and

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rectovestibular fistulas. Soiling might be underestimated compared to constipation

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because of daily enemas that help prevent a megacolon. We follow our ARM patients every 6 months after surgery until they reach 7 years of

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age. If they acquire a satisfactory bowel habit and tolerable social activity, we reduce the follow-up frequency to once per year. To manage constipation, we encourage dietary modifications and then describe oral probiotics, lactulose and polyethylene glycol serially. Additionally, we let our patients undergo a regular enema once a day or every other day, if constipation and soiling newly develop or become aggravated. Instead of biofeedback treatment, a daily scheduled enema can facilitate a regular bowel movement for each child at an age when toilet training is needed. The overall functional outcomes recorded for our present study were better than those described in previous reports. We cannot explain exactly, but one possible reason is that

ACCEPTED MANUSCRIPT very few of our patients had sacral anomalies. Another possible cause may be related to the Korean diet which is primarily based on rice, kimchi, and fermented food. This diet

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is helpful for fecal softening and for improving bowel movements. (17)

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Despite the favorable outcomes in our present patient series for ARM, our study had a few limitations of note. First, we performed a cross-sectional study based on the record

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of each patient’s last visit. We did not perform an anorectal manometric assessment and

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measure the sacral ratio. Also, the number of sacral anomalies was too small in our cohort to compare functional outcomes. Such an assessment will require longer followup and additional studies.

In conclusion, based on our clinical experience over two decades, we contend that an

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accurate diagnosis based on the Krickenbeck classification and surgeries that follow PSARP principles are crucial to achieve a good functional outcome in children with

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ARM. Constipation is still problematic, but care must also be taken not to impair the

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social functions of these patients.

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Acknowledgment

This work was supported by the Dong-A University research fund.

ACCEPTED MANUSCRIPT References

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1. Herman RS, Teitelbaum DH. Anorectal malformations. Clin Perinatol 2012;39:403422

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2. Holschneider A, Hutson J, Peña A, et al. Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations. J Pediatr Surg 2005;40:1521-1526.

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3. Živković SM, Krstić ZD, Vukanić DV. Vestibular fistula: the operative dilemma— cutback, fistula transplantation or posterior sagittal anorectoplasty? Pediatr Surg Int 1991;6:111-113.

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4. Levitt MA, Kant A, Peña A. The morbidity of constipation in patients with anorectal malformations. J Pediatr Surg 2010;45:1228-1233. 5. Julià V, Tarrado X, Prat J, et al. Fifteen years of experience in the treatment of anorectal malformations. Pediatr Surg Int 2010;26:145-149.

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6. Adeniran JO. One-stage correction of imperforate anus and rectovestibular fistula in girls: preliminary results. J Pediatr Surg 2002;37:E16

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7. Liu G, Yuan J, Geng J, et al. The treatment of high and intermediate anorectal malformations: one stage or three procedures? J Pediatr Surg 2004;39:1466–1471

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8. Menon P, Rao KLN. Primary anorectoplasty in females with common anorectal malformations without colostomy. J Pediatr Surg 2007;42:1103–1106

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9. Upadhyaya VD, Gopal SC, Gupta DK, et al. Single stage repair of anovestibular fistula in neonate. Pediatr Surg Int 2007;23:737–740 10. Levitt MA, Peña A. Anorectal malformations. Orphanet J Rare Dis 2007;2:33. 11. Levitt M, Peña A. Update on pediatric faecal incontinence. Eur J Pediatr Surg 2009;19:1- 9 12. Chen CJ. The treatment of imperforate anus: Experience with 108 patients. J Pediatr Surg 1999;34: 1728–1732 13. Rintala RJ, Lindahl HG. Fecal continence in patient having undergone posterior sagittal anorectoplasty procedure for a high anorectal malformation improves at adolescence, as constipation disappears. J Pediatr Surg 2001;36:1218–1221. 14. Peña A, Hong A. Advances in the management of anorectal malformations. Am J Surg 2000;180:370-376. 15. Rintala RJ, Pakarinen MP. Imperforate anus: long- and short-term outcome. Semin Pediatr Surg 2008;17:79-89.

ACCEPTED MANUSCRIPT 16. Rintala R, Lindahl H. Is normal bowel function possible after repair of intermediate and high anorectal malformations. J Pediatr Surg 1995;30:491-494.

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17. Lim SM, Im DS. Screening and characterization of probiotic lactic acid bacteria isolated from Korean fermented foods. J Microbiol Biotechnol 2009;19:178-86.

ACCEPTED MANUSCRIPT Tables

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Table 1. ARM classifications.

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Table 2. Morbidity and mortality.

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Table 3. Overall functional outcomes according to the Krickenberg classification.

Table 4. Continence outcomes in the ARM study cohort. Functional outcomes of children <6 years old, children between 6 and 12 years old, and children >12 years old

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are shown.

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Table 5. Functional outcomes of a perineal operation versus PSARP for ARM with a

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rectovestibular fistula. (A) Krickenbeck classification. (B) Continence outcomes.

ACCEPTED MANUSCRIPT Table 1. ARM classifications.

Perineal fistula

90

Rectourethral fistula

63

Male (n=200)

5

31.5 2.5

58

29

4

2

17

8.5

26

13.0

34

30.6

71

64.0

Rectovaginal

2

1.8

No fistula

4

3.6

bulbar

No fistula Unknown Perineal Vestibular

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Female (n=111)

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Rectovesical fistula

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45.0

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prostatic

%

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No.

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Classsification

ACCEPTED MANUSCRIPT Table 2. Morbidity and mortality.

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Congenital heart disease

5

Chronic lung disease

2

Sepsis

1 1

Morbidity

29

13

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Neurologic anomaly Acute myeloid leukemia Smith Lemli Opitz syndrome Mucosal prolapse 12: rectourethral fistula 1: no fistula Recurrent fistula

5

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(9.3%)

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1

4: rectourethralfistula 1: rectovaginal Adhesive ileus 2: rectourethral fistula

5

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20 (6.4%)

Cause

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No.

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Mortality

No.

1: rectovesical fistula 1: vestibular fistula 1: no fistula Neoanus stenosis

3 2: no fistula

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1: vestibular fistula Small bowel perforation

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1

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1: no fistula

Colostomy repair leakage 1

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1: rectourethral fistula

Necrotizing enterocolitis 1

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1: vestibular fistula

ACCEPTED MANUSCRIPT Table 3. Overall functional outcomes according to Krickenberg classification Soiling

Constipation

Type of ARM Yes

No

No

Gr 1

Gr 2

Perineal

117

112

5

117

0

0

Rectourethral

64

Bulbar

59

39

20

48

4

Prostatic

5

4

1

Vestibular

59

52

7

Vesical

3

1

2

No fistula

20

16

Vaginal

1

0

Gr 2

Gr 3

0

100

5

7

5

6

1

27

4

8

20

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Gr 1

1

1

0

1

0

3

1

57

1

1

0

43

3

6

7

1

1

0

1

0

0

1

2

4

20

0

0

0

12

0

4

4

1

1

0

0

0

0

0

0

1

40

247

7

8

2

183

12

29

40

15.2%

93.5%

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84.8%

Gr 3

3

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264

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Total

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224

No

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Cases

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VBM

No. of

6.44%

69.3%

30.7%

ACCEPTED MANUSCRIPT Table 4. Continence outcomes in the ARM study cohort. Functional outcomes of children <6 years old, children between 6 and 12 years old, and children >12 years old

No .

of

of

ARM

6~12

>12

y

y

31

25

56

0

0

0

15

8

12

4

1

sum

<6y

112

59

35

5

3

59

51

3

0

Ca

Fair

sum

<6y

Perinea

11

l

7

Prosta tic Vestib ular Vesical No fistula Vagina l

Total

20

17

16

1

0

2

217

6

(82

4

.2 %)

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r

2

1

1

12

22

1

0

0

1

0

5

0

0

0

0

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Bulba

64

0

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rethral

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Rectou

4

67 (8 7 % )

7

54 (80 .6 %)

96 (8 0 % )

>12

Poor

6~12

sum

<6y

0

5

2

0

3

1

2

20

4

9

7

0

1

1

0

1

0

1

7

0

3

4

1

2

1

0

4

2

0

1

2y

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ses

6~1

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Type

Good

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are shown.

0

y

y

>12y

1 0

2

1

7

1

1

5

40

9

12

19

(2.

(1.

(1.

(4.

(15

(11

(17

(15

7

3

5

2

.2

.7

.9

.8

%)

%)

%)

%)

%)

%)

%)

%)

ACCEPTED MANUSCRIPT Table 5. Functional outcomes of a perineal operation versus PSARP for ARM with a

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rectovestibular fistula.

VBM

Type of

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A. Krickenbeck classification Soiling

No.

PSARP

No

Gr 1

14

13

1

14

0

45

39

6

43

1

p-value

1.0 59

52

Gr 3

No

Gr 1

Gr 2

Gr 3

0

0

8

3

2

1

1

0

35

0

4

6

6

7

0.012

0.725

7

57

1

1

43

0

3

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B. Continence outcomes

Type of operation

No.

Good

Fair

Poor

Perineal operation

14

13

0

1

PSARP

45

38

1

6

Total

59

51

1

7

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Total

Gr 2

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operation

No

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Perineal

Yes

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operation

Constipation

p-value 0.69