10-Year outcome of children born with anorectal malformation, treated by posterior sagittal anorectoplasty, assessed according to the Krickenbeck classification

Background

Anorectal malformations (ARMs) affect 1 in 4000 to 5000 births. The Krickenbeck conference developed a classification based on anatomical and functional criteria to better compare treatment outcome.

Aim

The aim of this study is to evaluate the functional outcome in patients 10 years following standardized surgical treatment of ARM related to the Krickenbeck classification. .

Methods

Anatomical anomalies were classified as above. Children and carers were followed closely in a multidisciplinary clinic. Data were collected using a functional outcome questionnaire for a minimum of 10 years after surgical reconstruction. Outcome measurements were related to the Krickenbeck classification.

Results

There were 53 children in the study group (29 male, 24 female). Krickenbeck anatomy: perineal fistula, 36%; vestibular fistula, 26%; rectourethral fistula, 36%; rectovesical fistula, 2%.All children were treated by posterior sagittal anorectoplasty.In children with perineal fistula, continence was achieved in 90%. Grade 2 constipation was noted in 21%. One child had a Malone antegrade continence enema (MACE) procedure.In children with vestibular fistula, continence was achieved in 57%. Grade 3 constipation was noted in 28%. One child had grade 1, and one child had grade 2 soiling. Two children had a MACE procedure.In children with rectourethral fistula, continence was achieved in 58%. One child had grade 3 soiling. Grade 3 constipation was found in 42% of children and grade 2 constipation in 1 child. A MACE procedure was performed in 36%.The only child with a bladder neck fistula had a MACE procedure for intractable soiling.

Conclusions

The outcome for patients with ARM is related to the severity of the anomaly. The uniform application of the Krickenbeck classification should allow rational comparison of treatment outcome.     

Increased heritability of certain types of anorectal malformations

Purpose

Various lines of evidence point to genetic causes for the diverse spectrum of anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case series.

Methods

We searched our ARM database for all patients having family members with congenital anomalies. This group was analyzed to determine the type of ARM and the specific anomalies in affected family members.

Results

Thirty-nine of 1606 patients (2.4%) had a family member with a congenital anomaly. The associated non-ARM anomalies included sacral masses and gynecologic, hematologic, esophageal, duodenal, renal, and spinal anomalies. Of these, 24 patients (1.4%) had 1 or more family members with an ARM. Among females with a positive family history, 73% of patients had either a vestibular or perineal fistula, compared with only 36% in patients without a family history (P = .0004). Among males, 35% had perineal fistulas compared with only 10% of those without affected family members (P = .0051).

Conclusions

A positive family history in 1.4% is supportive of a strong genetic component to ARM. The risk of having an affected family member is significantly increased in the presence of a vestibular or perineal fistula. These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies.     

Normal and abnormal embryonic development of the anorectum in rats

Background

The embryologic and pathologic aspect of anorectal malformation (ARM) remains poorly understood. There is no universally accepted theory to explain anorectal embryology and the abnormal development that produces ARM. The aim of this study was to observe the developmental processes of anorectum in rats and to explore the abnormal embryonic development that leads to ARM.

Methods

Rat embryos with ARM were obtained by treating pregnant rats with administration of ethylenethiourea (ETU). Normal rat embryos and embryos with ARM from gestational days 12.5 to 20 were sectioned serially and sagittally and stained with H & E. The relevant structure including cloaca and urorectal septum (URS) were examined in a temporospatial sequence.

Results

Characteristics of anorectum development in ARM rat embryos treated by ETU were as follows: (1) URS never fused with cloaca membrane. (2) Dorsal cloacal membrane was maldeveloped. (3) Cloacal configuration was abnormal. (4) Tail groove never appeared. All type of ARM was the rectourethal fistula and common cloaca in ETU-treated rat embryos and was discernible on gestation day 16.

Conclusions

Absence of the tail groove and maldevelopment of the dorsal cloacal membrane, cloacal configuration, and urorectal septum are likely to be responsible for the formation of ARM. Failure of fusion of the URS with cloacal membrane is the immediate reason for rectourethral fistula or common cloaca in ETU-treated rats.     

Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach

Background/Purpose

The aim of this study was to compare the incidences of various associated anomalies among subjects with high and low anorectal malformation (ARM), study the coexistence of these anomalies, and compare their frequency with those quoted in the existing literature.

Methods

Ten years of data (from January 1993 through December 2002) on the 416 subjects from our center with anorectal malformations (ARM) were evaluated. The subjects with supra or translevator rectal pouch (radiologic or operative findings) were classified as high ARM and the rest as low ARM. The associated anomalies studied were vertebral, skeletal, renal, cardiac, vesicoureteric reflux (VUR), gastrointestinal, tracheoesophageal fistula, spinal, genital, and miscellaneous. For a detailed comparison, 4 subgroups were made: boys with high ARM, boys with low ARM, girls with high ARM, and girls with low ARM. Statistical methods were used for intergroup comparison.

Results

There were 68% male and 32% female subjects. Overall, 58% of subjects had high ARM (supralevator and translevator). Our attempt to compare the incidences of anomalies in our study population with those in other populations was defeated because of nonuniformity of classification and investigation of these anomalies in different studies. We found a frequent clubbing of anomalies affecting distantly developing anatomic regions in patients with ARM in many studies. The highest incidence of associated anomalies was found among boys with high ARM. The male subjects also had significantly more genital anomalies in association with low ARM and gastrointestinal tract anomalies in association with high ARM. On the other hand, girls had more urologic anomalies with high ARM and VUR with low ARM.

Conclusions

Except for a low incidence of spinal anomalies (8%) and of VUR (1.7%), the incidences of most associated anomalies in our study were comparable with those of the earlier studies. Additionally, the girls with high ARM were observed to have significantly more urologic anomalies compared with the boys with high ARM in contrast to the results of the earlier reports. The existence of anomalies in distantly developing anatomic regions in patients with ARM supports the possibility of a “generalized” insult during embryogenesis rather than a (“localized”) defect. It was observed that the boys with ARM are more likely to suffer morbidity because of frequent occurrence of multiple associated anomalies, and it may be worthwhile to evaluate of the role of sex chromosome in relation to ARM. The authors are also of the view that there is a need for more uniformity in classification of the anomalies and in their diagnostic approach because various reported studies have differed so widely on these aspects that any interstudy comparison is difficult or not feasible.     

Anal endosonography is useful for postoperative assessment of anorectal malformations

Aim

This study aimed to develop and evaluate a scoring system for anal endosonography to assess anal canal structures after repair of anorectal malformations (ARM).

Methods

Forty patients with ARM aged 16 years (range, 1-22 years) and 20 controls aged 17 years (range, 0.5-20 years) were examined. Anal function was assessed clinically and by anal canal manometry. The anal canal structures were imaged by anal endosonography using a 7.5-MHz transducer. A scoring system was developed to assess the anal sphincters as visualized on the endosonographic images.

Results

Continence was significantly correlated to anal canal pressures. The estimated extent of muscle defect (measured in quadrants) and the number of disruptions in the internal and external anal sphincters correlated significantly to the rest and squeeze pressures, respectively. Thus, patients (>4 years) with squeeze pressure of less than 80 cm H₂O were characterized by more than 1 disruption in the external anal sphincter ring and 2 or more quadrants with scar tissue.

Conclusion

The extent of scar tissue and the number of disruptions in the anal sphincters correlate with anal canal pressures and continence after ARM repair. Anal endosonography may be used to study the results after different surgical techniques and for prognosis on continence in patients with ARM.     

Impacto de los colgajos transanales de avance en la continencia fecal

Objective

The aim of this study was the prospective evaluation of the functional results of a series endorectal advancement flaps in the treatment of complex anal fistulas.

Material and methods

A total of 90 patients were operated on for a complex anal fistula by means of fistulectomy and endorectal advancement flap. The functional results were evaluated using the Wexner continence scale and an anorectal manometry study before and after surgery.

Results

There were seven patients with fistula recurrence (7.7%) and the same surgical procedure was performed on five of them, resulting in healing in all cases. Significant reductions in maximum resting pressure (83.85±30.96 vs 46.51±18.67; p<0.001) and maximum squeeze pressure (220.97±100.21 vs 183.06±75.36; p<0.001) were seen 3 months after surgery. On the continence scale, 80% of patients had a normal continence with a value of 0 on thepostoperative Wexner scale, while 20% recorded changes in continence values, most of them lower than 3 points.

Conclusions

Endorectal advancement flap is an effective surgical procedure in complex anal fistulas treatment, with a low recurrence rate. Only 20% of the patients showed changes in the continence value.     

Single-stage repair for rectovestibular fistula without opening the fourchette

Background

Anorectal malformations are one of the most common congenital defects. This study is conducted to demonstrate new technique for treatment of rectovaginal fistula without disturbing the fourchette through posterior sagittal approach.

Method

All the patients of rectovestibular fistula admitted after the neonatal age were treated with posterior sagittal anorectoplasty without opening the fourchette. The results were evaluated for cosmetic appearance and anal continence.

Result

A total of 40 patients were included in our study. All patients were more than 1 month old. Operative time ranges from 70 to 150 minutes. The cosmetic appearance was good. Anal continence was good in 72% cases and fair in 20% cases. Fifteen percent of patients had minimal constipation and 7.5% patients had mucosal prolapse.

Conclusion

Single-stage repair for vestibular anus through posterior sagittal anorectoplasty without opening fourchette has a good cosmetic appearance and good anal continence.     

Surgical management of perineal masses in patients with anorectal malformations

Background

The aim of this study was to review the outcome of surgical management of various types of perineal masses encountered in patients with anorectal malformations (ARM).

Methods

Retrospective review from 2 large pediatric anorectal referral centers.

Results

Twenty-two patients with a perineal mass were identified in more than 2000 patients treated for an ARM over a 15-year period. The 22 patients (4 men) represented all levels of severity of ARMs. The lesions were of 3 types: lipomas (n = 10), vascular anomalies (n = 4), and hamartomas/choristomas (n = 8). The lipomas were carefully removed from between the muscle fibers during the posterior sagittal anorectoplasty. The vascular anomalies (3 of 4 were hemangiomas) underwent magnetic resonance imaging preoperatively, but none were found to invade deeply and all were excised at the time of the posterior sagittal anorectoplasty. The hamartomas/choristomas all occurred in women, and 50% arose as a pedunculated mass from the vulva. The lesions contained tissues such as glia, osteoid, nephrogenic rests, and endocervical-type mucosa. One was initially misinterpreted as a teratoma, prompting a wider excision. This and all subsequent patients have been correctly diagnosed pathologically as having either hamartomas or choristomas, which were not widely excised. Follow-up ranges from 5 months to 12 years. Six of the 10 lipoma patients are continent. One vascular anomaly was re-excised and there was minor wound separation in another. None of the hamartoma/choristoma lesions recurred.

Conclusion

The presence of unusual perineal masses can add to the complexity of ARMs; however, most of these lesions can be carefully excised with preservation of the muscle complex and ultimate continence. Hamartomatous lesions can be mistaken for teratomas but do not require aggressive excision with clear margins.     

Spinal dysraphism with anorectal malformation: lumbosacral magnetic resonance imaging evaluation of 120 patients

Purpose

We evaluated the prevalence of spinal dysraphism (SD) in patients with anorectal malformation (ARM) by magnetic resonance imaging (MRI).

Methods

From January 2002 to March 2009, 120 patients with ARM who underwent anorectal reconstruction were evaluated for SD with sacral plain film, spinal ultrasonography (US), and lumbosacral MRI. We adopted Krickenbeck international classification of ARM.

Results

Spinal dysraphism was present in 41 (34.2%) of 120 patients with ARM, 3 (13.0%) of 23 patients with perineal fistula, 7 (29.2%) of 24 patients with vestibular fistula, 4 (36.4%) of 11 patients with rectovesical fistula, 18 (40.9%) of 44 patients with rectourethral fistula, and 9 (60.0%) of 15 patients with cloacal anomaly (P = .04). Among 41 patients having SD detected by MR, 26 patients (26/41; 63.4%) underwent detethering surgery for tethered spinal cord. The mean sacral ratio (SR) in patients who underwent detethering surgery (0.54 ± 0.19) was significantly lower than in patients who did not undergo detethering surgery (0.69 ± 0.13; P < .001). The optimal cutoff for the SR value predicting SD requiring detethering surgery was 0.605, with sensitivity of 65.4% and specificity of 77.7%.

Conclusions

Spinal dysraphism is common in patients with ARM, and its prevalence is higher in patients with complex ARM. Spinal anomalies can occur even with benign types of ARM and, therefore, that all patients should be screened. Magnetic resonance imaging is useful in detecting occult SD that may be missed by conventional radiologic evaluation, physical examination, and spinal US. We further recommend a lumbosacral MRI examination in those whose SR is lower than 0.6.     

Follow-up of anorectal anomalies: the Italian parents' and patients' perspective

Background

Several studies addressed the long-term follow-up of anorectal anomalies (ARM) in relation to clinical issues (eg, continence) and quality of life.However, most of these studies are based upon questionnaires designed by physicians and/or health-care professionals, which may be sources of bias.

Methods

To investigate whether parents of children (patients themselves or older children or adults) who were born with ARM had the perception that they received appropriate care and follow-up, a survey was carried out in Italy, in 2003, among families with children with ARM. A 20-item questionnaire was mailed to 425 patients and parents listed in the AIMAR (Italian association for anorectal malformation) database and was returned by 209 families.The questionnaire covered different aspects of ARM: type of malformations and surgery, associated anomalies, fecal and urinary continence, as well as aspects about information given to the parents and satisfaction of care and follow-up received.

Result

The patients and parents demonstrated a good understanding of distribution of malformations and their anatomical classification; nevertheless, 67% of responders had to travel outside their living area for surgery. Bowel management (BM) was commonly used among subjects; however, a significant percentage of patients using regular enemas were still soiling (58 patients were clean and 116 soiled).Urinary continence problems were mostly found in females with cloaca; nevertheless, 21 male patients reported occasional dribbling of difficult interpretation. Most subjects were provided with a good explanation about their or their child's malformation at time of reconstructive surgery, but the same level of information was missing about functional prognosis later in life when the need of an appropriate psychologic support was also felt.

Conclusions

Patients and parents born with ARM are generally satisfied with the information received and with the short-term postreconstructive follow-up care.At longer follow-up, although more than a quarter of patients are completely clean, there is a significant percentage of subjects who still soil while following a BM program. This is explained by the small number of nurses and BM specialists who are involved in the rehabilitation process and by the lack of appropriate information about functional prognosis that are conveyed to the parents. In this respect, psychologic support in bridging the gap between cure and care may be critical.     

Megarectum after surgery for anorectal malformations

Purpose

Megarectum complicating surgery for anorectal malformation (ARM) has implications for long-term continence. Factors influencing continence and defecation include intact rectal reservoir, innervation/proprioception of the anorectal muscle complex, functioning anorectal inhibitory reflex (AIR), and intact perception at the anal margin. We studied outcomes after surgery for ARM with emphasis on megarectum; particularly as to whether altered rectal proprioception from anatomic sacrococcygeal anomalies affect incidence. We also assessed whether an abnormal AIR could trigger passive rectal dilatation without mechanical obstruction.

Methods

Eighty six infants (53 male) with ARM over 20 years were included. Demographics, surgical history, pathology, defecation patterns, imaging, manometry, and morbidity were analyzed. Incidence of sacrococcygeal malformations in children with and without megarectum was compared using Fisher exact test. Manometry results were evaluated for integrity of AIR and correlated to megarectum occurrence.

Results

There were 23 high/intermediate and 63 low ARMs. Fourteen (16%) developed a megarectum: 6 of 23 in high and 8 of 63 in low anomalies (P = .33). Twelve patients underwent megarectum resection at a median of 2.6 years (7 months to 10 years); 2 received bowel management protocols. Fifty-seven percent (8/14) of children with and 7% (5/72) without megarectum had sacrovertebral anomalies (P = .0001). Patients with preoperative manometry (n = 5) demonstrated an intact AIR. Colonic manometry demonstrated hyperactive colons (n = 2). Constipation was the predominant preoperative symptom; 3 patients suffered from incontinence after resection. All the specimens showed normal innervation and thickened muscularis on pathology.

Conclusions

Sacral anomalies, which are more prevalent in children who developed megarectum, may result in abnormal rectal proprioception contributing to this pathology. Innervation anomalies may coexist, although preoperative manometries showed normal AIRs. Rectal dysmotility may lead to stool retention with subsequent dilatation, and patients who underwent colonic manometry had diffuse colonic hypermotility. Further physiologic and cellular studies are needed to elucidate the causes of this significant complication after surgical ARM repair in the absence of obstruction.     

Further evidence on totally transanal one-stage pull-through procedure for Hirschsprung's disease

Background/purpose

Fifteen consecutive children aged 20 days to 12 years with biopsy-proven Hirschsprung’s Disease (HD) underwent a transanal pull-through procedure over a 17-month period. These patients have been divided into 2 groups. The first was a series of 9 patients, which helped us gain familiarity and confidence with technical and postoperative gestational problems, and the second series was of 6 patients, which fully corroborates and adds further evidence on the minimally invasive nature of the technique. Mucosectomy of aganglionic bowel, access to the peritoneal cavity, division of rectosigmoid mesenteric vessels, pull-through of normoganglionic colon, colectomy, and coloanal anastomosis all were performed transanally. Patients underwent a program of progressive anal dilatations and were assessed for postoperative clinical course, continence, constipation, diarrhea, postoperative enterocolitis, perianal excoriations, and anal stricture.

Results

Mucosectomy was done under direct vision. Operating time ranged from 150 to 350 minutes. The average length of bowel resected was 13.5 cm with a range of 8 cm to 25 cm. There were neither intraoperative nor significant postoperative complications. All but 2 patients accepted full oral feedings on postoperative day 2. Mean hospital stay in the first series of 9 patients was 7 days, range, 5 to 12 days; that of the second series of 6 patients was 5 days, range, 4 to 8 days. All children currently experience 1 to 6 bowel movements per day at a follow-up period of 1 to 17 months.

Conclusions

A one-stage pull-through procedure for HD can be performed successfully with a completely transanal approach. This technique is associated with excellent early clinical results. Many more cases and a longer follow-up period will be required to compare long-term results with other one-stage procedures for definitive treatment of HD.     

Sexual problems in male patients older than 20 years with anorectal malformations

Background/Purpose

The nervi erigentes in high- and intermediate-type male anorectal malformation (ARM) runs a relatively medial course and is vulnerable in sacro-perineal dissection. These types of ARM are also associated with a high frequency of sacral anomaly, and sexual problems may be expected. However, sexual function cannot be evaluated until after the individual passes puberty. Few reports have investigated the sexual status of pubescent males with ARM. The present study evaluated sexual problems in patients with high- and intermediate-type ARM.

Methods

Sexual problems such as erectile dysfunction and ejaculatory incompetence were evaluated in 17 of 23 men aged more than 20 years who underwent operation for high- or intermediate-type ARM between September 1974 and January 2005.

Results

Erection angle was normal in 9 patients (52.9%), mild in 6 patients (35.3%), and dysfunctional in 2 patients (11.8%). Ejaculatory function was normal in 10 patients (58.8%), with ejaculatory incompetence in 5 patients (29.4%) and retrograde ejaculation in 2 patients (11.8%). Either erectile or ejaculatory dysfunction was present in 5 patients (29.4%), whereas both were present in 2 patients (11.8%). Sexual problems were identified in 7 patients (41.2%), with sacral anomalies in 5 (71.4%) of these 7 patients.

Conclusions

Sexual problems such as erectile and ejaculatory dysfunction are common in patients with high- or intermediate-type ARM. Patients with sexual distress require persistent follow-up and continuous counselling to support their sexual problems.     

Social quality of life for adult patients with anorectal malformations

Background/Purpose

Pediatric surgeons who performed the initial surgery on anorectal malformations (ARM) lose contact with the patients as they become adults. In the present study, we examined 20- to 40-year-old adult patients with a history of surgery for ARM and analyzed them from the points of social quality of life.

Patients and Methods

Twenty-nine patients with ARM, aged 20 to 40, were surveyed by questionnaire or personal interview. Thirteen with high-type and 9 with intermediate-type anomalies underwent abdominoperineal rectoplasty, and 7 with low-type anomalies underwent perineoplasty between 1965 and 1985. Responses were analyzed from the perspectives of bowel, urinary, and sexual functions and social activity.

Results

One third of patients with high- or intermediate-type anomalies occasionally complained of fecal soiling. However, the other patients gained good bowel function and enjoyed occupational or student life without problems. Fecal soiling was the key factor disturbing occupational life, although the problem remained within a socially manageable level. All of the patients with ARM had normal urinary function. Three of the 18 male patients had sexual problems such as erectile or ejaculatory dysfunction because of associated genitourinary anomalies. Nine of the 11 female patients had regular menstruation and the other 2 had irregular menstrual periods. Five female patients were married and 4 of the 5 had children (1-5 children). Modes of delivery were normal vaginal delivery in 8 and cesarean section in 1. Only one of the 5 had a slight sacral anomaly. However, she had no apparent abnormality of bladder function and got through pregnancy and delivery without difficulty.

Conclusion

One third of adult patients with high- or intermediate-type anomalies after abdominoperineal rectoplasty had some problems in bowel function. Fecal soiling was the key factor that disturbed their occupational life. Most of the patients had normal urinary and sexual functions if they did not have associated genitourinary anomalies and enjoyed social activities.     

The morbidity of constipation in patients with anorectal malformations

Background

Constipation in anorectal malformations (ARM) is extremely common, particularly in the lower types. Failure to adequately treat it can lead to significant morbidity.

Methods

From our series of over 2000 patients with ARM, we reviewed 398 with good prognosis for bowel control and a tendency toward constipation; rectoperineal fistula (63), rectovestibular fistula (114), rectobulbar urethral fistula (104), imperforate anus with no fistula (46), rectal atresia or stenosis (9), and cloaca with a common channel below 3 cm (62). Those lost to follow-up, not yet toilet-trained (<3 years old), or with poor prognostic features were excluded. We compared morbidities in patients we operated on and managed primarily (group A, n = 268) to those managed at other institutions who suffered from constipation or incontinence and were referred to us for treatment (group B, n = 130). Those we managed primarily were subjected to an aggressive senna-based laxative program, started after their primary repair or after colostomy closure.

Results

Morbidities associated with constipation were higher in the referral group and included fecal impaction (7.8% vs 38.5%), overflow pseudoincontinence (4.9% vs 33.8%), and megacolon (14.6% vs 54.6%). A loop or transverse colostomy (4.9% vs 9.2%), stoma or anorectal stricture, or a stenotic fistula (2.2% vs 28.5%) were contributing factors. Adequate laxative treatment with, in certain cases, resection of a megarectosigmoid (2.6% vs 23.1%) enabled many pseudoincontinent children to achieve bowel control (reported previously). Unneeded colorectal biopsies (1.9% vs 16.2%), Hirschsprung's-type pullthroughs (0% vs 3.1%), and, in retrospect, unneeded antegrade continent enema procedures (0% vs 3.1%) were higher in Group B. Overall, 19.8% of Group A and 66.2% of Group B experienced constipation-related morbidities.

Conclusion

The morbidity of constipation in ARM includes fecal impaction, megacolon, incontinence, and performance of unneeded surgeries. Inadequate treatment, the type of the original colostomy, and postoperative anal or stomal stricture as well as stenotic fistulae were key contributing factors. Children with ARM and good prognosis for bowel control are at the greatest risk for severe constipation and its consequences. With recognition and aggressive, proactive treatment, we have found that these morbidities can be reduced.     

Transanoproctoplasty: a 21-year review

Background

Transanal anorectoplasty was developed through the 1980s by the senior author (AB) as an alternative approach to posterior sagittal anorectoplasty for the management of imperforate anus. This study evaluates this surgical approach and its longer-term results.

Methods

Case notes of all patients treated from 1984 to 2005 were reviewed. Operative procedures, colostomy requirement, complications, and long-term outcome were recorded. Patients were grouped according to the status of the pelvic floor, the location of the rectal fistula, and the sacral ratio.

Results

A total of 245 patients (175 male, 70 female) underwent transanal anorectoplasty. The perineum was well formed in 208 patients (85%), moderately formed in 15 (6%), and poorly formed in 22 (9%) patients. Two hundred three patients (82.8%) had a visible perineal or vulval fistula, 24 (9.8%) had a prostatic urethral fistula, whereas 18 (7.4%) had a bulbourethral fistula. Overall, 6 patients (2.5%) had wound infection or breakdown. As continence is age related, 32 patients were excluded from the study. Of the remaining 212 patients, 182 are continent with no soiling or only minimal staining. Thirty patients born with a poor perineum are incontinent.

Conclusion

Transanal anorectoplasty is a safe procedure with limited morbidity. It is sphincter sparing and permits accurate placement of the rectum with its internal sphincter within the anal canal. The anus lies accurately placed at the center of the external anal sphincter muscle complex. Given a well-performed surgical intervention, eventual continence relates to the original anatomy and neurology of the pelvic floor. Transanal anorectoplasty should be regarded as an alternative rather than as a substitute to posterior sagittal anorectoplasty for reconstruction of most forms of imperforate anus.     

Sonic hedgehog and bone morphogenetic protein 4 expressions in the hindgut region of murine embryo with anorectal malformations

Purpose

The aim of this study was to determine the possible role of the retinoid-mediated signaling pathway in the pathogenesis of anorectal malformations (ARM). The authors investigated whether all-trans retinoic acid (ATRA) affects the expression pattern of Sonic hedgehog (Shh) and Bone morphogenetic protein 4 (BMP4), which play important roles in anorectal morphogenesis in vertebrates.

Methods

Pregnant ICR strain mice were fed 100 mg/kg of ATRA on the ninth gestational day (E9). Embryos with or without administration of ATRA were obtained from the uteri between E12 and E16 and were fixed immediately in a 4% paraformaldehyde solution. Frozen sections were evaluated for concentric layers around the endodermal epithelium by H&E and immunohistochemistry using antibodies created specifically to act against Shh and BMP4.

Results

More than 95% of the embryos administered ATRA had ARM; rectoprostatic urethral fistula, rectocloacal fistula, and short tail were the most frequent anomalies in the mouse embryos. On E14, normal mouse embryos had normal rectum and anus in which the epithelium of the anorectum was positive for Shh, and the mesenchyme was positive for BMP4. In the ARM embryos, however, the epithelium of the anorectum was negative for Shh, and the mesenchyme was also negative for BMP4.

Conclusions

In normal hindgut development, Shh from the epithelium induces BMP4 expression in the mesenchyme, which differentiates into the lamina propria and the submucosa. In ARM embryos, expressions of Shh and BMP4 could not be found in those regions of the hindgut. Therefore, these findings indicate that Shh and BMP4, which appear to play a crucial role in organogenesis of the hindgut, were disturbed in the cell signaling pathway between the epithelium and the mesenchyme layers.     

Management of postoperative infections after the minimally invasive pectus excavatum repair

Purpose

Pectus excavatum is frequently repaired using the minimally invasive placement of a substernal bar (Nuss procedure). Infectious complications after the Nuss procedure are potentially devastating. To date, the management of postoperative infectious complications has not been well described.

Methods

A retrospective review of all patients (N = 168) who underwent the Nuss procedure from January 1, 1997, to October 1, 2003, at our institution was performed. Six patients (4%) had postoperative infections, and their medical records were reviewed.

Results

Of the 6 patients, 5 underwent operative drainage for wound abscesses that developed 2 to 76 weeks postoperatively. The other patient developed cellulitis 12 months postoperatively and was treated effectively with antibiotics alone. Recurrent infections were treated in 3 of 6 patients, one of whom eventually required removal of the bar resulting in a mild, residual pectus excavatum defect. One of 6 patients has had the substernal bar removed electively. The remaining 4 continue to be without clinically apparent infection at this time and are over 1 year removed from their infection.

Conclusions

Although uncommon, infectious complications after the Nuss procedure require complex management strategies. Despite recurrent infection in some cases, most infectious complications occurring after the minimally invasive repair can be effectively treated without having to remove the substernal bar.     

Dynamic magnetic resonance imaging of the pelvic floor in children and adolescents with vesical and anorectal malformations

Background

Magnetic resonance imaging (MRI) of the pelvic floor allows better assessment of pelvic pathology and has a potential as an adjunct for therapy planning. In complex congenital malformations of the pelvic floor and continence organs, it plays a major role in assessing urinary and fecal incontinence or constipation, especially when performed as a dynamic investigation such as MRI defecography.

Patients and Methods

Twenty-three patients (3-21 years old) with urinary and/or fecal incontinence or constipation attributable to congenital malformations of the pelvic region presented at our institution. The diagnoses were anorectal malformations (18), bladder exstrophy (2), and cloacal exstrophy (3). All patients underwent static and dynamic MRI of the pelvic floor with rest, squeeze, and evacuation in supine position.

Results

Morphology and function of the pelvic floor and pelvic organs could be demonstrated in each case. The reason for urinary incontinence, fecal incontinence, or constipation could be defined, and an individual therapeutic management concept was made based upon the data obtained by the investigation.

Conclusions

The advantages of this method, in comparison to others, are direct visualization of the pelvic floor muscles and continence organs and their anatomical relationship during different functional actions. Pelvic floor dysfunction is often the reason for fecal and urinary incontinence and can be detected by MRI. Especially in children, minimizing radiation exposure is of major concern. Disadvantages are the costs and long investigation time.     

Laparoscopic duodenoduodenostomy in the neonate

Background

Minimally invasive procedures are performed in neonates for an ever-expanding list of congenital anomalies. The laparoscopic repair of duodenal atresia and stenosis in the neonate is one such indication.

Method

We report our experience with the laparoscopic duodenoduodenostomy for duodenal atresia and stenosis in the neonate over the past 4 years. A retrospective chart review was conducted on all cases of duodenal atresia and stenosis diagnosed at our center between January 2004 and January 2008.

Results

Seventeen neonates underwent laparoscopic duodenoduodenostomy successfully during the period. Patient weight at surgery ranged from 1.35 to 3.75 kg. Most were operated on within the first week of life. Many had associated anomalies. There were no conversions to an open procedure, no intraoperative complications, and no anastomotic leaks observed. Time to full feeds averaged 12 days.

Conclusions

Laparoscopic duodenoduodenostomy in the neonate can be safely and successfully performed with excellent short-term outcome.