Bowel symptoms in children with anorectal malformation — a follow-up with a gender and age perspective

Background

Gender specific outcome for children with anorectal malformations (ARM) is rarely reported although it is important for medical care and in parent counseling.

Purpose

To assess bowel function according to the Krickenbeck system in relation to ARM-subtype, gender and age.

Method

All children born with ARM in 1998–2008 and referred to two centers in two different countries were followed up. The bowel function in 50 girls and 71 boys, median age 8 years, was analyzed.

Results

Among those with a perineal fistula, incontinence occurred in 42% of the females and in 10% of the males (p = 0.005) whereas constipation occurred in 62% of the females and 35% of the males (p < 0.001). No bowel symptoms differed between the females with perineal and vestibular fistulas (p > 0.3 for every symptom). Sacral malformations were associated with incontinence only in males with rectourethral fistulas. Constipation among the males differed between the age groups: 58% versus 26% (p = 0.013). Bowel symptoms did not change with age among the females.

Conclusion

Gender differences in outcome for children with ARM must be considered. Males with perineal fistulas had less incontinence and constipation than the females with perineal fistulas. The females with perineal and vestibular fistulas had similar outcomes.     

肛肠手术行骶管麻醉操作技巧的临床研究

目的探讨在肛肠手术中行骶管麻醉的操作技巧。方法对2022例肛肠手术患者采用骶管麻醉于手术中及术后的麻醉镇痛效果的临床资料作回顾性分析。结果有效1659例（82％）;显效202例（10％）;无效161例（8％）,并发症发生率低。结论骶管麻醉用于肛肠手术镇痛效果良好,且安全可靠,值得推广。     

大鼠膀胱低位控制中枢的形态学研究

目的从形态学上研究膀胱交感中枢和副交感中枢之间的联系。方法通过神经追踪的方法，在SD大鼠的腹下神经和盆节给予银光金（FG），确定膀胱的交感和副交感低位控制中枢的部位，于膀胱交感控制中枢及骶副交感核（SPN）分别给予辣根过氧化物酶（HRP）和结合麦芽凝集素的辣根过氧化物酶（WGA-HRP），分别在腰6至骶1（L6-S1）和腰1至腰2（L1-L2）节段检测逆行标记细胞和顺行标记末梢，并且通过免疫组织化学的方法鉴别副交感节前神经元（乙酰胆碱转移酶阳性）和中间神经元。结果腹下神经和盆节给予FG。逆标交感节前神经元主要位于L1，L2节段的后联合核（DCN）及双侧中间侧细胞柱（IML）。副交感节前神经元位于L6，S1节段的骶副交感核（SPN）。于L1-L2节段IML区给予HRP，在SPN的背内侧发现有逆标胞体较小的非胆碱能性神经元。于SPN中电泳入WGA-HRP，在L1-L2节段的IML区发现有顺行标记的神经末梢。结论膀胱的低位交感中枢和副交感中枢之间存在有形态学上的联系，骶副交感核（SPN）背内侧组的中间神经元可能在两者之间起协调作用。     

Use of anorectal manometry for evaluation of postoperative results of patients with anorectal malformation: a study from Kuwait

Purpose

The objective of this study is to use anorectal manometry for functional assessment of early postoperative results after corrective surgery for anorectal malformations (ARMs) in children and compare manometric observations with age-matched controls. Parents were counseled and management strategies were planned according to the manometric assessments.

Methods

From August 2005 to September 2009, 32 patients who underwent surgery for ARM were assessed postoperatively with anorectal manometry using a water-perfused anorectal motility catheter to record anal canal length or high-pressure zone, resting pressure of anal canal (RP), and rectoanal inhibitory reflex (RAIR). These patients were divided in 2 groups (infants, <1 year; children, >1 year) according to the age at the time of performance of anorectal manometry that was done at 6 months or later following stoma closure or anoplasty.

Results

Out of these 32 patients, high anomaly was present in 13, whereas 19 had low type of defect. Manometric anal canal length of the children with high and low ARM was 2.10 ± .44 and 2.25 ± .53 cm, respectively, which was significantly shorter than that of their age-matched controls(P < .05). In patients with high ARM, RP in infants (17 ± 7.7 mm of Hg) and children (21 ± 9.4 mm of Hg) was lower than that of controls (RP in infants = 42.43 ± 8.19 mm of Hg, RP in children = 43.43 ± 8.79 mm of Hg, P < .001). In patients with low ARM, RP in infants (34 ± 8.6 mm of Hg, P = .002) and children (26 ± 9.9 mm of Hg, P = .001) was lower than that in controls. Presence of RAIR was demonstrated in 5 (38.4%) of 13 patients with high ARM and in 11 (57.9%) of 19 cases with low ARM. Parental counseling was done after this early evaluation, and management strategies like bowel management program and biofeedback training were planned according to the results of the tests.

Conclusion

Our anorectal manometric results suggest that patients with ARM had short anal canal with lower RP and impaired RAIR, which could affect the ultimate functional outcome in these patients. Thus, postoperative anorectal manometric evaluation of the patients with ARM can give more realistic information about future continence and might help in planning future treatment strategies like bowel management program or biofeedback training.     

骶管麻醉配合复方亚甲蓝注射液在肛肠手术中的应用

目的探讨复方亚甲蓝注射液简化骶管麻醉在肛肠手术中的应用效果。方法对120例肛肠手术患者采用复方亚甲蓝注射液简化骶管麻醉，观察术中及术后麻醉镇痛效果。结果有效率96％，无效率4％，并发症发生率低。结论复方亚甲蓝注射液骶管麻醉用于肛肠手术，术中及术后镇痛效果良好且安全可靠。     

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.     

Right congenital diaphragmatic hernia associated with anorectal malformation

We describe a neonate in whom a right congenital diaphragmatic hernia and an anorectal malformation coexisted. Their coexistence in the same patient is rare.     

Colon agenesis with ileovesical fistula and anorectal malformation

Colonic agenesis is a rare cause of congenital bowel obstruction and is usually associated with other malformations such as abdominal wall defects or gastrointestinal, cardiac, urogenital, and musculoskeletal lesions. Although many uncommon types have been reported, ileovesical fistula (IVF) associated with total colonic agenesis (TCA) has not been reported in a newborn with anorectal malformation (ARM). This is the first report of a 1-day-old newborn with ARM, IVF, and TCA.     

Bowel perforation in newborn with anorectal malformation and no fistula at presentation

Purpose

Anorectal malformation (ARM) in newborns with no fistula at presentation resembles intestinal obstruction. The aim of this study is to study the factors associated with bowel perforation in this group of patients.

Methods

From 2000 to 2012, 106 newborns with ARM were managed in our hospital. Thirty neonates without fistula at presentation were included in this study. Demographic data and the incidence of bowel perforation were studied.

Results

Twenty-nine male and 1 female were included in the study. Five patients were born premature and six patients had low birth weight. Six patients had Down's syndrome and 12 patients had associated anomalies. Cross-table lateral x-ray in prone position was performed from 20 to 24 hours after birth. All operations were performed within 48 hours after birth. One neonate underwent primary anoplasty. Twenty-nine neonates underwent colostomy. Two males developed bowel perforation before surgery (at 33 and 36 hours after birth). Perforation was associated with low birth weight (p = 0.034) and was not associated with prematurity (p = 0.31), Down's syndrome (p = 0.634) or the presence of other associated anomalies (p = 0.687).

Conclusions

In newborns with ARM, bowel perforation can occur within 36 hours after birth. Forty-eight hours of waiting is too long as it risks perforation. In this study, a neonate with low birth weight was trended toward bowel perforation.     

骶神经电刺激在治疗肛门直肠疾病中的作用

肛门直肠疾病严重影响患者生活质量,而治疗难度大,仍是临床上较为棘手的问题。近年来,骶神经电刺激,包括短期间断骶神经电刺激和长期持续骶神经电刺激,在肛门直肠疾病治疗领域备受关注,大量研究报道了良好的治疗效果,为突破肛门直肠疾病当前的治疗瓶颈带来了新的希望。本文将就骶神经刺激在排粪失禁、便秘和功能性肛门直肠痛等肛门直肠疾病治疗中的应用现状进行综述。     

Outcome of excision of megarectum in children with anorectal malformation

Background/Purpose

Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome.

Methods

We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores.

Results

Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean.

Conclusion

Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal continence.     

Deficient motor innervation of the sphincter mechanism in fetal rats with anorectal malformation: a quantitative study by fluorogold retrograde tracing

Background/purpose: Deficiency of motoneuron innervation to the sphincter mechanism has been described in patients with anorectal malformation. Whether this event is primary or secondary remains unclear.Methods: The authors quantified the motoneuron innervation of the sphincter mechanism by Fluorogold (FG) retrograde tracing experiment in fetal rats with anorectal malformation. Anorectal malformation was induced in rat fetuses by ethylenethiourea (ETU). Serial longitudinal sections encompassing the whole width of lumbosacral spinal cord were examined. The number of FG-labelled motoneurons were scored and compared between male fetuses with or without malformation in the ETU-fed group and normal controls.Results: The number of FG-labelled motoneurons in the fetuses without defect, with imperforate anus (IA), with neural tube anomalies (NTA), with combined IA and NTA, and normal controls were determined to be (mean ± SEM) 109.13 ± 37.88, 55.05 ± 25.85, 48.20 ± 30.34, 54.43 ± 28.55, and 135.22 ± 28.78, respectively. FG-labelled motoneurons in the fetuses with IA, NTA, and combined IA and NTA are significantly fewer than that in fetuses without defects (P < .05) and in normal controls (P < .005).Conclusions: These findings suggest that defective motoneuron innervation to the sphincter mechanism is a primary anomaly that coexists with the alimentary tract anomaly in anorectal malformation during fetal development. The intrinsic neural deficiency is an important factor likely to contribute to poor postoperative anorectal function despite surgical correction of anorectal malformation.     

一期后矢状入路肛门直肠成形术治疗中高位肛门直肠畸形疗效分析

目的探讨一期后矢状入路肛门直肠成形术治疗中高位肛门直肠畸形的疗效。方法回顾分析了2003年10月至2008年4月在我院采用后矢状入路肛门直肠成形术治疗中高位肛门直肠畸形12例．总结术后疗效并随访其排便功能。结果病例随访显示,12例患者的肛门具有良好收缩力,无明显肛门失禁,排便功能良好,效果满意。排便情况经临床评分结果为优良。结论经后矢状入路肛门直肠成形术治疗中高位肛门直肠畸形,可以达到充分暴露术野．缩短治疗时间的目的,效果良好。     

Laparoscopic versus open abdominoperineal rectoplasty for infants with high-type anorectal malformation

Background/Purpose

There has not been any study comparing laparoscopic abdominoperineal rectoplasty (ARP) with open ARP. This study investigated the true benefits of the laparoscopic approach in infants with high anorectal malformation.

Patients and methods

A retrospective analysis was performed in 28 infants with high anorectal malformation treated between 1990 and 2007. Fifteen were treated by open ARP, and 13 were treated by laparoscopic ARP. Surgical durations, amount of bleeding, complications, anorectal pressure measurements, barium enema study, and clinical assessment were compared between the 2 groups.

Results

The amount of intraoperative bleeding was significantly less in laparoscopic ARP (12 ± 11 g) than in open ARP (65 ± 44 g) (P = .003). Anal resting pressure was 34 ± 9 cm H₂O after laparoscopic ARP and 31 ± 14 cm H₂O after open ARP. Anorectal reflex was positive in 1 (7%) of 15 after open ARP and 3 (23%) of 13 after laparoscopic ARP. There was no significant difference in barium enema study and clinical assessment between the 2 groups. With regard to postoperative complications, mucosal prolapse occurred in 10 (67%) of 15 after open ARP and in none of 13 after laparoscopic ARP (P = .003).

Conclusion

Benefits of the laparoscopic approach were reduced intraoperative bleeding and a lower incidence of postoperative anal mucosal prolapse. These results indicate that minimal dissection of the mesorectum in laparoscopic ARP may provide those better outcomes.     

An accessory labioscrotal fold associated with anorectal malformation in female neonates

The association of perineal lipomas with anorectal malformations in the newborn has been reported previously (Shaul DB, Monforte HL, Pena A, et al. Surgical management of perineal masses in patients with anorectal malformations. J Pediatr Surg 2005;40:188-191; Wester T, Rintala RJ. Perineal lipomas associated with anorectal malformations. Pediatr Surg Int 2006;22:979-981). Only 2 cases of accessory labioscrotal fold with perineal lipoma have been reported (Redman JF, Ick KA, North PE. Perineal lipoma and an accessory labial fold in a female neonate. J Urol 2001;166:1450, Sule JD, Skoog SJ, Tank ES. Perineal lipoma and the accessory labioscrotal fold: an etiologic relationship. J Urol 1994;151:475-477). To our knowledge, no other reports of accessory labioscrotal fold with anorectal malformation in the female patient have appeared in the literature. We present our experience of treatment with these rare cases and a review of the literature.     

Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula

Extraluminal calcified meconium is found frequently by prenatal ultrasound in cases with bowel perforation and meconium peritonitis. Intraluminal intestinal meconium calcifications are rarely seen in prenatal sonography. Meconium calcifications result from a mixture of meconium and urine that indicates a connection between intestinal and urinary tract.We report a case of a male newborn prenatally diagnosed with intraluminal echogenic calcifications at 23 weeks of gestation, suggesting an anorectal malformation (ARM) with rectourinary fistula. At birth, the child presented with a complex ARM including high anal atresia with both perineal and rectourethral fistula. Furthermore, a bladder outlet obstruction due to a urethral stenosis was diagnosed. Vesicostomy was performed as an emergency procedure followed by colostomy during neonatal period. Posterior sagittal anorectoplasty was performed at the age of 4 months.Prenatal echogenic calcifications within bowel should raise the suspicion of ARM with rectourinary fistula and bladder outlet obstruction.     

小儿肛门直肠畸形术后排便障碍的原因及治疗

目的探讨小儿肛门直肠畸形术后排便障碍的原因及治疗.方法 1985年1月～1998年12月共治疗肛门直肠畸形120例,对106例进行随访,其中男性78例,女性28例,年龄4～14岁,平均年龄10岁,随访率为80%.结果 38例高位肛门直肠畸形(36%),术后均有排便障碍(100%);32例中间位肛门直肠畸形(30%),术后15例有排便障碍(14%);36例低位肛门直肠畸形(34%),术后有6例排便障碍(6%).结论在高位肛门直肠畸形的病人中,术后均无正常排便,这可能与同时伴有脊髓神经及脊柱畸形有关.中间位及低位肛门直肠畸形术后有排便障碍与外科手术技术有关.腹腔镜手术技术应用于中高位肛门直肠畸形的治疗,使术后排便障碍大大减少,从而大大地提高了病人的生活质量.     

A study of the functional aberration of the pouch in anorectal malformation associated with congenital pouch colon

Objective There are no in vitro studies of congenital pouch colon (CPC) associated with anorectal malformation (ARM) to understand its mechanism of contractility. There is no consensus regarding the utilization of the CPC in repair of anorectal malformation. In view of the above, it was decided to carry out detailed in vitro physiological study of the excised CPC. Method The excised specimens of CPC were taken and 15‐ to 20‐mm long both longitudinal and transverse strips of muscle were obtained both from the proximal and distal part. Contraction was recorded using software chart‐5 for windows. Drugs used were acetylcholine, histamine, adrenaline, atropine and pheniramine maleate. The amplitude of contractions was converted to tension gram and then the tension so developed was expressed as tension per unit mass (per gram of wet tissue). Results There were total of 21 specimens of high ARM with CPC. Five specimens were of the complete pouch, which did not show a response to any drug and the remaining 16 had an incomplete pouch. The mean longitudinal and circular muscle contractions of these 16 samples were statistically higher for the proximal segment than the distal segment both for acetylcholine and histamine. The effect of atropine was not significant but that of adrenaline and pheniramine maleate were significant on the distal segment muscle. Conclusion Congenital pouch colon being deficient or having poorly developed receptors in their wall can not function properly as a reservoir for faeces and, hence, it should be excised to allow adequate function.     

Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease

Aim

The aim of this study was to examine the prevalence of sexual dysfunction and distress and to assess whether sexual functioning could be predicted by psychosocial factors in childhood and adolescence in patients with an anorectal malformation or Hirschsprung disease.

肛门直肠畸形术后排粪失禁患儿盆腔磁共振成像表现及其临床意义

目的通过肛门直肠畸形术后排粪失禁患儿的盆腔MRI表现,了解盆底肌的形态,直肠、肛管的形态和位置,以及脊髓和骶骨的发育,为分析排粪失禁的原因及制订治疗方案提供客观依据。方法回顾性分析2009年9月至2011年12月间山东大学第二医院收治的34例肛门直肠畸形术后排粪失禁患儿的临床和影像资料,其中男2l例,女13例,年龄3,14岁。应用1．5TMR扫描仪,常规行轴位、冠状位及矢状位扫描,观察肛门括约肌、耻骨直肠肌和提肛肌、直肠、肛管的形态,以及脊髓、骶骨的发育情况。结果MRI检查提示：肛门外括约肌发育不良18例,耻骨直肠肌发育不良23例,肛提肌发育不良27例;直肠位置异常6例,直肠扩张12例,肛直角增大11例;肛管周围脂肪组织5例;合并神经管闭合不全2例,Currarino综合征2例,骶骨发育不全11例,直肠尿道瘘2例。以上影像学结果均经临床最终证实。结论MRI可清楚显示肛门外括约肌、耻骨直肠肌和肛提肌的形态,以及直肠和肛管的形态和位置,同时还可显示脊髓和骶骨的发育情况,是评价肛门直肠畸形术后排粪失禁患儿非常有价值的检查方法。