A neonate with anorectal malformation with rare limb defects report of a case

A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of ‘axial mesodermal dysplasia’ in our patient, rather than ‘caudal regression syndrome’, as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.     

Anorectal malformation with congenital absence of vagina: a case report and review of the literature

Congenital anorectal malformations are relatively common, and associated genitourinary malformations have been reported in up to 40% of patients. Uterovaginal malformations are also not rare in children. They are known to occur with increased frequency in children with anorectal malformations, but the diagnosis may still be difficult. We report herein one such case of anorectal malformation associated with congenital total absence of the vagina in which the uterovaginal malformation was not diagnosed until the operative repair of the anorectal malformation. The operative procedure was thereafter directed, along with the anorectoplasty, towards restoring a functional uterovaginal tract. Review of the literature revealed that such a diagnosis is unsuspected or delayed in more than half of affected patients. Furthermore, these patients present with many diagnostic and therapeutic problems. Our report highlights the need to be aware of this condition to allow for an earlier diagnosis and appropriate operative treatment.     

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.     

Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.     

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients

Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the “classical” presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.     

排便造影方法对先天性无肛畸形术后肛门直肠功能的评价

目的 探讨先天性无肛畸形患儿术后排便功能检测的客观方法。方法 将盐水控制试验经过改进与排便造影相结合,提出一种新的Ｘ线排例造影检查方法。并对４５例先天性无肛术后患儿和１５例正常儿的肛门综合控制能力和耻骨直肠肌动态功能进行客观评价。结果 反映综合控制能力的首次漏出量与临床评分具有非常明显的相关性,相关系数为０．８６２,优、良、劣３组分别比较均出现显著性差异。反映耻骨直肠肌功能的各种状态下直肠肌管角在     

高、中位无肛畸形保留内括约肌的肛门成形术后随访观察

目的：观察保留内括约肌的肛门成形术后排便功能。方法：无肛畸形患儿２６例，高位１５例，中位１１例，全部行保留内括约肌的肛门成形术，随访平均６．２８年。通过临床评分、肛管直肠测压、肌电图、钡灌肠等客观评分标准进行综合评定肛门排便功能。结果：术后肛门功能临床和综合评定优者分别由过去的２３．１％、２６．９％提高到７３．３％和６６．７％（Ｐ＜０．０１和Ｐ＜０．０５），而术后肛门功能差者由过去的２３．１％、２３．１％分别下降到６．７％和０。结论：多数无肛畸形包括有直肠泌尿生殖道瘘的无肛畸形，在直肠远端有内括约肌，手术尽量保留和利用，以便获较好的排便功能。     

Single-stage correction of imperforate anus with a rectourethral or a rectovestibula fistula by semi-posterior sagittal anorectoplasty

The aim of this study was to evaluate the clinical advantages of a single-stage correction of imperforate anus with a rectourethral or a rectovestibula fistula in neonates by a semi-posterior sagittal anorectoplasty (PSARP). The medical records of 38 neonates (5 females and 33 males) who had imperforate anus with a rectourethral or a rectovestibula fistula were reviewed and analyzed in Children’s Hospital of Fudan University between January 2004 and July 2007. All patients had an anorectal malformation but without obvious sacral dysplasia. The first group had a single-stage PSARP without a colostomy. All neonates were full-term without severe cardiac, renal anomalies or severe abdominal distension. The second group had a staged Peña procedure; the neonates were not suitable for a single-stage PSARP because of severe abdominal distention or cardiac, renal anomalies. A transverse colostomy was performed, followed 3–6 months later by the Peña procedure, and colostomy closure 2 months thereafter. The congenital anomalies, fetal age, birth weight, time and age of the definitive operation, complications, length of hospital stay, cost, and postoperative bowel movements were analyzed between these two groups. Among the 38 patients, 22 had a single-stage definitive operation and 16 had a staged pull-through procedure. There were significant differences in congenital anomalies between the two groups (P = 0.0314), but no statistically significant differences between the fetal ages, weight at birth, and time and age at the time of the definitive operation (P > 0.05). One patient in the first group had intestinal obstruction and intestinal perforation. For the second group, early complications were related to the colostomy. At after 3 years postoperatively, 9 patients in the first group and 12 patients in the second group were followed-up and all had positive voluntary bowel movements. There were no statistically significant differences in soiling and constipation grades between the two groups. The total length of hospital stay was 12.06 ± 0.85 and 33.85 ± 0.94 days and the cost was 10,681.1 ± 1,759.5 and 27,355.9 ± 1,952.0 RMB for the first and second groups, respectively. There was a statistically significant difference in the total length of hospital stay and cost between the two groups (P < 0.0001); however, there were no statistically significant differences in the length of hospital stay and cost during the definitive operation between the two groups (P > 0.05). This retrospective study shows that it is feasible for correction of imperforate anus with a rectourethral or a rectovestibula fistula in neonates using a modified PSARP without a colostomy.     

Perineal skin bridge and levator muscle preservation in neutral sagittal anorectoplasty (NSARP) for vestibular fistula

The incision in limited posterior sagittal anorectoplasty for vestibular fistula (VF) extends from the coccyx to the fistula with the rectum identified by partial sagittal division of the levator muscle. In anterior sagittal anorectoplasty, the perineal incision extends from the fistula opening to the posterior margin of the external sphincter complex while preserving intact the levator muscle. We describe a modification of the operation for repair of VF, the neutral sagittal anorectoplasty (NSARP), which preserves both a perineal skin bridge between the neo-anus and the posterior fourchette and the levator muscle. Leaving the perineal skin bridge and the levator muscle intact could be important both from the aspects of perineal wound-healing and functional outcome. The skin incision in NSARP extends from the coccyx to the anterior limit of the external sphincter muscle complex as defined by muscle stimulation. An artery forceps passed through the VF facilitates the location and exposure of the rectum. The levator muscle is left intact. The dissection and closure of the VF is done entirely from within the opened rectum. There is an intact perineal skin bridge between the neo-anus and the posterior fourchette at the completion of the NSARP. In 12 consecutive patients with VF, NSARP prevented the risk of wound complications occurring between the neo-anus and the posterior fourchette. A diverting colostomy was safely avoided in our last five patients. NSARP does not involve any division of the levator muscle and it also retains an undisturbed wad of tissue that could function as the perineal body. All five patients who are 3 years or older demonstrate voluntary bowel movements. Preserving the perineal skin bridge and the levator muscle in NSARP have contributed to the improvement of aesthetic appearance of the perineum and faecal continence in our patients.     

The use of augmented-pressure colostography in imperforate anus

Colostomy is recommended in most newborns with imperforate anus (IA), except those with low-type anorectal malformations (ARM). Accurate demonstration of the anatomy of any associated fistula between the rectum and the urogenital tract is essential for optimal surgical management. Augmented-pressure distal colostography is recommended to fulfill this requirement prior to definitive surgical repair of IA. We examined 12 cases of high or intermediate-type ARM using this technique, which clearly demonstrated the distal perineal anatomy. All were confirmed at posterior sagittal angorectoplasty.     

Congenital megalourethra associated with urethral duplication and imperforate anus

A newborn with a prenatal diagnosis of right hydroureteronephrosis and enlarged penis is presented. At birth, the baby had an imperforate anus (IA) with a megalourethra; radiologic and ultrasonographic studies showed a left polycystic kidney and right hydroureteronephrosis, right vesicoureteral reflux, and an incomplete urethral duplication with dilatation of the posterior urethra. The IA was corrected on the 1st day of life and a vesicostomy was performed at 1 month. At 1 year of age the valve obstructing the ventral posterior urethra was resected and the vesicostomy was closed. At 14 months the baby underwent a urethroplasty with a vertical preputial tubularized island flap and excision of the penile urethral duplication. Exact knowledge of the malformation was essential in planning the appropriate surgical treatment. Accepted: 11 June 1997     

限制性后人字入路直肠肛门成形及外括约肌成形术治疗中低位无肛合并直肠会阴瘘

目的 针对中低位无肛合并直肠会阴瘘的患儿改良一种新的手术方法,使之较现行的方法如Pena、后切术更加简便、更符合生理以减少手术并发症.方法 切口采用限制性(即限制在3 cm以内)后人字切口,显露瘘管和直肠下端,在直肠下端的后方将肛门外括约肌复合体部分切开,将两侧的肌纤维环包于直肠下端.完成外括约肌成形术,在中线后切瘘管及直肠壁,于正常肛隐窝处完成肛门成形.结果 24例先天性无肛合并直肠会阴瘘(X线侧位片直肠盲端在P-C线或至Ⅰ线间)患儿进行了该手术,术后全部病例进行随诊:除1例5岁患儿术后便秘,全部患儿恢复自主排便,可控制,无失禁及溢粪.1例患儿术后肛门切口轻度感染经切开引流治愈.结论 该手术较Pe(n)a手术操作更加简便,局部创伤小,术后避免直肠回缩,减少了术后并发症,且术后不必扩肛;不同于传统的"后切术",术中进行肛门外括约肌成形,术后随诊疗效满意.

Abstract：

Objective To study the clinical outcomes of anorectoplasty and external anal sphincterplasty via posterior approach with Y-shaped incision to repair intermediate and low anorectal malformation complicated with rectal perineal fistula in children. Methods Twenty four patients with intermediate and low anorectal malformation complicated with rectal perineal fistula were enrolled in this study. Via the posterior approach, a Y-shaped incision (＜3 cm) was made to expose the lower rectum and fistula. The external anal sphincter was identified and dissected at the posterior aspect of the lower rectum. The external anal sphincterplasty was performed by overlapping the ends of the muscle around the lower rectum. The rectal perineal fistula was resected and anorectoplasty was performed. Results All surgeries were successfully performed. Voluntary bowel movement and fecal continence was restored on 23 patients after surgery. One 5 years old patient still had constipation. Mild incision infection was found on 1 patient, and was cured after opening the incision and draining the pus. No fecal incontinence or anastomotic stricture was noted. Conclusions Compared with Pena surgery, anorectoplasty and external anal sphincterplasty via posterior approach with Y-shaped incision is less complicated and invasive to repair intermediate and low anorectal malformation complicated with rectal perineal fistula. By using this procedure, better sphincter shape and fecal function is achieved on patients.     

腹腔镜在高位肛门闭锁成形术中应用价值的探讨

目的 探讨腹腔镜辅助下对高位肛门闭锁患儿行Ⅰ期肛门成形术的价值。方法 先天性高位肛门闭锁患儿10例，男孩8例，年龄分别为1～3d的4例；年龄6个月并在新生儿期行乙状结肠造瘘的患儿4例；女孩2例，年龄分别为1d和3个月，为合并直肠闭锁的肛门闭锁和一穴肛畸形。对于6例无造瘘患儿，术中首先腹腔镜监视下，游离直肠，分离结扎断离直肠尿道(阴道)瘘管；然后通过盆底肌肉中心形成隧道，将直肠从中脱出，与会阴皮肤吻合。对于行乙状结肠造瘘手术后的4例患儿，腹腔镜下关闭断离瘘管后，切除造瘘口以远的直肠，将近端的结肠从盆底肌肉中心形成隧道脱出。结果 10例患儿均在腹腔镜辅助下Ⅰ期完成肛门成形术，腹腔镜手术操作时间平均67．8min(45～90min)，出血量平均8．3ml(5～20m1)，无需要输血者。未出现明显的术中并发症，所有患儿术后恢复顺利，于术后11d去除尿管和膀胱造瘘管，无尿道瘘憩室发生，1例乙状结肠造瘘手术后的患儿发生腹部切口感染。术后随访3至26个月，1例患儿手术后1个月出现肛门狭窄，于术后3个月行狭窄段切除术治愈。另外9例无并发症发生，目前患儿排便控制功能良好。结论 腹腔镜辅助肛门成形术是治疗高位肛门闭锁有效方法，有手术打击小、处理直肠泌尿系瘘方便、辨认盆底肌中心准确、对肌肉损伤小等优点，免除患儿分期手术之苦。     

先天性肛门闭锁术后大便失禁的生物反馈治疗

目的　探讨先天性肛门闭锁术后大便失禁的治疗方法。方法　利用多种先进的客观检测手段,通过不同侧面对２１ 例肛门闭锁患儿肛门直肠功能进行综合评定,并根据患儿不同的控制机制异常,选择性进行加强肛周肌肉力量、改善直肠感觉阈值等５ 种方法的生物反馈训练。结果　接受生物反馈训练的中低位畸形患儿临床评分由３．７ ±１．０ 提高至５．７ ±０ ．５,而高位畸形由２．３ ±１．０ 提高至４ ．６ ±０ ．５。经过训练之后,代表肛周肌肉力量、直肠功能和直肠肛管综合控制能力的指标均有非常明显的改善,统计学处理差异有显著性意义。结论　针对性的生物反馈训练方法对于治疗肛门闭锁术后大便失禁效果非常显著,对提高患儿生活质量具有重要意义     

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.     

无肛畸形直肠尿道瘘根治术后泌尿系并发症

２７例无肛直肠尿道瘘根治术后随访结果：６例有尿道憩室，其中３例无症状；２例尿后滴尿；１例尿淋漓；１例尿道狭窄，但无症状。发生这些并发症的原因与根治术有关。最主要是瘘管处理不当，Ｓｏａｖｅ手术是形成尿道憩室的常见原因，另外损伤膀胱及前列腺后部的神经可引起排尿功能障碍。合理地选择术式和根治时机，手术时在尿道留置硬质或金属导管以判定瘘管和尿道关系，对防止术后并发症有重要意义。     

Management of recurrent or overlooked rectourethral fistula and urethral injury resulting from treatment of imperforate anus

Recurrent or overlooked rectourethral fistula and urethral injury may result from errors in the diagnosis and treatment of imperforate anus. It is common for the patients to be referred to another surgeon after several failed reoperations. We present three cases successfully treated by the posterior sagittal approach. This procedure is ideally suited for patients who have previously been operated upon by other techniques, since an excellent operative field is obtained. It also has the advantage of allowing correction of the bowel position within the striated muscle complex, thus improving the chances for good fecal continence.     

改良股薄肌转移代外括约肌行肛门重建治疗肛门闭锁术后大便失禁

目的 评估改良股薄肌转移代肛门外括约肌重建术治疗肛门闭锁术后大便失禁的临床效果.方法 回顾性分析自2003年8月至2012年8月于山东大学第二医院小儿外科收治的31名行改良股薄肌代肛门外括约肌治疗大便失禁患儿的病例资料,围绕术前及术后大便临床表现进行病历分析.并依据术前倒立位腹部平片显示的闭锁程度将入选病例分为三组.所有入选病例的手术前、后临床表现均采用克利夫兰大便失禁程度评分系统进行评分并分级.按照其资料的分布及性质,手术前后的比较依据正态性分布情况选用配对t检验或者非参数检验,组间的比较采用依据正态性分布情况和方差齐性选用成组设计方差分析,两两比较采用LSD方法.结果 入选病例术后随访6～87个月,平均33.9个月,22例患儿获得大便排放的自主性控制,大便失禁评分明显降低,与术前相比差异具有统计学意义;肛门直肠测压结果显示肛管最大收缩压及肛管静息压明显增加,手术前后差异具有统计学差异;直肠静息压手术前后未见明显变化,差异无明显统计学意义.结论 改良股薄肌转移代肛门外扩约肌通过提高肛管收缩压及肛管静息压以维持肛管的严密闭合达到大便排放的自主控制,是治疗肛门闭锁术后大便失禁的有效方法.     

Combined rectal atresia and rectal stenosis

A unique case of combined rectal atresia and rectal stenosis with a normal anal canal is reported. To our knowledge, no similar case has been reported to date.     

新生儿一期经脐单切口腹腔镜肛门成形术22例分析

目的 评估新生儿一期经脐单切口腹腔镜辅助肛门成形术(single-incision laparoscopic-assisted anorectoplaty,SILAARP)的安全性和疗效.方法 回顾性分析2013年6月至2015年12月间成功施行一期SILAARP新生儿22例的临床资料.其中,直肠尿道前列腺部瘘8例,直肠尿道球部瘘14例;平均年龄42.1 h.术中经脐部2 cm切口,提出乙状结肠近端,于系膜缘对侧沿纵轴切口1 cm,置入16号肛管,经肛管注入生理盐水反复冲洗抽吸远近端肠管至胎便完全清除.细针注射器穿刺扩张小肠抽吸积气,创造腹腔镜操作空间.经脐置入1个5mm腹腔镜和2个3mm传统腹腔镜手术器械,行肛门成形直肠尿道瘘修补术.并与本中心以往行三期SILAARP患儿22例行疗效对比.三期SILAARP患儿中,直肠尿道前列腺部瘘6例,直肠尿道球部瘘16例,与一期SILAARP患儿比较,差异无统计学意义(P=0.5).结果 22例患儿均成功施行一期SILAARP.平均手术时间2.4h,腹腔镜辅助远端直肠拖出平均时间1.7h.一期SILAARP患儿手术时间在肛门闭锁直肠尿道前列腺部瘘患儿为(1.7±0.3)h,在肛门闭锁直肠尿道球部瘘患儿为(1.9±0.4)h;与三期患儿肛门闭锁直肠尿道前列腺部瘘组1.8h和肛门闭锁直肠尿道球部瘘组1.9h比较,差异均无统计学意义(P=0.62,P=0.9).一期SILAARP患儿中位随访时间为18个月(3～33个月),无一例发生术后并发症.术后MR证实远端直肠置于盆底肌中心.20例患儿术后第1天即有排便,2例术后便秘患儿接受1～3个月间断洗肠治疗后可自主排便.结论 新生儿一期SILAARP安全有效,使肛门闭锁治疗达到生后立即根治,“视觉无瘢痕”的高级微创目标,能提高患儿远期生活质量.