Association of imperforate anus with short colon: a report of eight cases

Eight cases of imperforate anus with short colon were seen in our hospital from April 1982 to December 1987. Five were boys, three were girls, and their ages ranged from 2 days to 2 years. The international literature about this kind of disease was reviewed. The disease's name, embryology, diagnoses, differential diagnosis, treatment, and prognosis are discussed herein. We suggest that this case, which was not combined with exstrophy of the bladder and/or intestine, be called association of imperforate anus with short colon (AIASC). Other cases, combined with exstrophy of the bladder and/or intestine could be called, association of imperforate anus with exstrophy splanchnica (AIAES). This distinction is necessary because each group differs in symptoms, signs, diagnosis, treatment, and prognosis.     

The management of end-stage renal disease in infants with imperforate anus

Genitourinary malformations are frequently associated with imperforate anus, and death from renal failure is reported in up to 6% of children with supralevator imperforate anus. In recent years, advances in renal transplantation and the management of end-stage renal disease (ESRD) have extended these therapies to infants in the first 2 years of life. In infants with imperforate anus and ESRD, it is unclear if the additional burdens of the anorectal malformation and its staged repair contraindicate dialysis and transplantation. This report describes our experience with three such infants and outlines an approach to their care, addressing the following key issues: the initial surgical management of the imperforate anus, the careful search for associated urinary tract and other malformations, the ESRD management, and the appropriate timing of the staged bowel reconstruction and renal transplantation. These cases confirm that such children may be successfully managed by dialysis and renal transplantation co-ordinated with bowel reconstruction; however, there remain the longterm risks of immunosuppression, bladder and bowel dysfunction, and associated congenital anomalies.     

The association of imperforate anus and Hirschsprung's disease in siblings

The recognition of Hirschsprung's disease is often delayed in children with imperforate anus. Two siblings with imperforate anus who were born of consanguineous parents had persistent constipation after the repair of the anorectal malformation. Subsequently colon biopsy confirmed that each had long segment aganglionosis beginning at the splenic flexure. A suspicion that these two disorders may coexist is mandatory for early correct diagnosis.     

A case of acrocephalosyndactyly with low imperforate anus

The authors report a case of a female acrocephalosyndactyly with imperforate anus without fistula, which is rare in girls. Acrocephalosyndactyly is characterized by premature closure of the sutures (craniosynostosis) and fusion or webbing of hands and feet (syndactyly). The most general types of the syndrome are the Apert syndrome and the Pfeiffer syndrome. They usually have some fibroblast growth factor receptor (FGFR) gene mutations, so that acrocephalosyndactyly is thought to be involved in “FGFR-related craniosynostosis.” To the authors’ knowledge, only 4 cases of anorectal anomaly in acrocephalosyndactyly have been reported in the world. The relationship between anorectal anomaly and the FGFR gene is not clear now, but might be clarified in the future.     

Primary laparoscopic repair of high imperforate anus in neonatal males

Purpose

The standard approach to males with high imperforate anus has been a staged procedure starting with a descending colostomy, then posterior sagittal anorectoplasty with colostomy closure after 3 months. Recently, a minimally invasive approach to the repair of high imperforate anus has been described in infants after colostomy. We describe 6 newborn males with high imperforate anus successfully repaired laparoscopically as a primary, single-stage procedure.

Methods

A retrospective chart review was performed on all patients with imperforate anus from October 2003 to October 2006.

Results

We evaluated 9 newborn males with high imperforate anus. Of these patients, 6 underwent primary laparoscopic repair on day 1 to day 2 of life. Of these 6 patients, 3 were found to have bladder neck fistulas, whereas the other 3 had prostatic urethra fistulas. All patients passed stool within the first 72 hours postoperatively. One patient has required a procedure for a mild rectal prolapse. Follow-up ranges from 2 to 30 months in the single-stage group.

Conclusion

Our early results using primary laparoscopic repair appear encouraging. Laparoscopy allows excellent visualization and assessment of the fistula and repair of high imperforate anus without need for colostomy. Long-term follow-up will be needed to assess outcomes and continence rates.     

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature

Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with sensorineural hearing loss. Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS. Here, we described a 16-month-old male patient with typical TBS clinical features including imperforate anus and preaxial polydactyly. Two coding polymorphism sites were identified in this case. One is silent (rs1965024, 2574 C > T), whereas the other yields a new codon encoding a different amino acid (rs4614723, 3823 G > A). The hot spot mutations in exon 2 were not suggested. Therefore, lack of SALL1 gene mutations and the presence of variable phenotypes in the sporadic cases might suggest DNA alternations in the noncoding regions of SALL1 gene and/or in other genes modulating SALL1 gene expression or functions.     

Congenital Spigelian hernia with cryptorchidism: probably a new syndrome

Nearly 28% of pediatric Spigelian hernias reported in the literature are associated with ipsilateral cryptorchidism. However, the pathogenetic relationship between the two has not been satisfactorily explained in the past. This paper describes a male neonate born with cryptorchidism and imperforate anus. Anal stenosis following the treatment of imperforate anus had let to the development of multiple hernias including Spigelian hernia on the right side. Surgical exploration revealed the right testis being located within the Spigelian hernia. Based on the sequence of events, it is hypothesized that Spigelian hernia in this case is a sequela of maldescended testis and raised intraabdominal pressure. As this explanation is also applicable to all of the previously reported cases, the author suggests that the combination of Spigelian hernia and ipsilateral cryptorchidism could probably form a hitherto unrecognized new syndrome.     

Occult neurovesical dysfunction in children with imperforate anus and its variants

Neurovesical dysfunction (NVD) is frequently encountered in children with imperforate anus and its variants. Such functional urologic problems are often compounded by associated anatomic urologic abnormalities that in combination may profoundly alter the course and prognosis of children with imperforate anus. Herein, we report 16 such cases. Management of NVD in children with imperforate anus offers several unique challenges that require important alterations in management. Specific recommendation are presented.     

Treatment of high imperforate anus with large omphalocele in a baby boy

Synchronous treatment of high imperforate anus with large omphalocele is a challenge for pediatric surgeon. A case of this unusual condition in a male neonate is presented. The high imperforate anus was repaired by primary one-stage posterior sagittal anorectoplasty, and the omphalocele was treated nonoperatively. Recovery was uneventful. J Pediatr Surg 37:1368-1369.     

Double split of notochord with massive prolapse of the gut

An unusual case of split notochord syndrome associated with double split of the spine, total prolapse of the gastrointestinal tract, short colon, and imperforate anus is reported. The absence of any neurologic deficit was suggestive of diplomyelia.     

Routine MRI evaluation of low imperforate anus reveals unexpected high incidence of tethered spinal cord

Background/Purpose: Previous clinical practice has included evaluation for the presence of tethered cord in those children who have imperforate anus with a high lesion. To define the incidence in children with low lesions, the authors reviewed their experience with a protocol employing routine magnetic resonance imaging (MRI), regardless of the level of the lesion, to determine the presence of a tethered cord in all children with imperforate anus. Methods: A retrospective review of children with imperforate anus was conducted over the last 13 years at our institution. Lesions were categorized as high versus low based on the supralevator or infralevator position of the fistula. Results: Sixty-three patients completed evaluation for a tethered cord. Twenty-two (34.9%) of these 63 patients had a tethered cord: 11 of 41 (26.8%) patients with high lesions and 11 of 22 (50.0%) of those with low lesions. Of those children with a low lesion, 83% of the boys had a tethered cord, whereas 38% of the girls had a tethered cord. Forty-five percent of the patients with low lesions and a tethered cord did not have any other lumbosacral anomalies. All 22 children with a tethered cord underwent surgical release. Conclusions: The incidence of tethered cord in children with low lesions of imperforate anus is not lower than those with high lesions. The authors advocate early evaluation of all children with imperforate anus for a tethered cord. J Pediatr Surg 37:966-969.     

Importance of cystourethrography in neonates with imperforate anus

Infants born with imperforate anus have a high incidence of genitourinary anomalies. Vesicoureteral reflux was the most common abnormality in this series. Since these patients often have bacteriuria, this is an important finding. An intravenous pyelogram and voiding cystourethrogram should be part of the evaluation of each neonate with imperforate anus. Persistent cloaca, a frequent finding in the female patients, may require special diagnostic attention.     

The anal sphincter force in the evaluation of postoperative imperforate anus.

Eight-four children, all of whom had imperforate anus, were evaluated by measuring the anal sphincter force (ASF). Sixty-three were boys, 46 of whom had a high imperforate anus and 17 of whom had the low anomaly. There were 7 girls with cloacal malformations, 7 girls with high type and 7 with low type of malformation. In all the boys with a high imperforate anus the ASF ranged from 50 to 300 g. Those boys with a low type had an average ASF of 513 g. Normal values vary from 480 to 600 g. Twenty-five of the boys with a high imperforate anus had undergone posterior sagittal anorectoplasty and none were clinically continent. Their ASF measurements were lower than in patients with spina bifida. Patients with a low anomaly, both boys and girls, were continent and had high ASF readings. The ASF is a simple, inexpensive, and objective measurement of fecal incontinence when this is the consequence of muscular inadequacy. A reproducible quantification is now available to compare results of different operations and different centres.     

Perforation of the colon in neonates

Purpose

Gastrointestinal perforation is a catastrophic condition in neonates, especially in premature neonates. Although perforation is commonly observed in the small intestine during the neonatal period, perforation of the colon is a rare condition. This study analyzed the clinical findings and results of perforation of the colon in neonates.

Methods

Between 1989 and 2004, 8 neonates were treated for spontaneous perforation of the colon at our institute. These patients were retrospectively reviewed.

Results

Gestational ages ranged from 36 to 41 weeks. Seven patients weighed above 2500 g, whereas one patient weighed 1800 g at birth. Perforations developed within 7 days after birth in 6 patients and before birth in two. Associated bowel diseases included rectosigmoid type of Hirschsprung's disease in two patients, immature ganglia in one, imperforate anus in one, colonic atresia in one, and necrotizing enterocolitis in one. An obvious cause was not identified in the remaining two. Six patients without definite anatomic obstructions, such as imperforate anus or colonic atresia, required evaluations for suspected Hirschsprung's disease. All 8 patients underwent colostomy and recovered from peritonitis. Seven survived, but one died of sudden infant death syndrome.

Conclusions

In this study, perforation of the colon during the neonatal period mostly occurred in term or near-term neonates and carried a good prognosis. During management, it was important to identify Hirschsprung's and its allied disorders as a cause of perforation.     

先天性肛门闭锁超声定位诊断探讨

目的 探讨应用超声检查对先天性肛门闭锁进行定位诊断。方法 对25例先天性肛门闭锁患儿术前使用超声检查,测定直肠盲端与肛门隐窝皮肤之间的距离(P-P间距),并设立耻尾线(PC线),从而决定首次手术方式,并将超声检查结果与手术实际结果对比。结果 25例患儿均能准确地测得P-P间距,并能满意设立PC线,超声检查结果与手术基本相符。结论 超声检查应用于肛门闭锁术前定位诊断,具有准确率高、安全简便、可重复性强等优点,值得推广应用。     

Double atresia of hindgut with ileal stenosis: a case report

An unusual case of imperforate anus with sigmoid colonic atresia and ileal stenosis is described. Only six cases of imperforate anus associated with colonic atresia have previously been reported in Japan. The possibility of other alimentary obstructions should thus be considered when anorectal anomalies are observed.     

Recurrent epididymo-orchitis caused by posterior urethral valve associated with imperforate anus

Epididymo-orchitis is an uncommon complication of imperforate anus. A 14-year-old boy who received surgical repair for imperforate anus was diagnosed with right epididymo-orchitis. Intravenous pyelography showed a right solitary kidney. Posterior urethral valve, reflux of contrast medium to the ejaculatory duct and incomplete duplicate urethra were suspected from voiding cystourethrography. Valve ablation was performed to prevent the recurrence of epididymo-orchitis. Improvement of urinary force was achieved and the patient has been free of recurrence during a 2-year follow up. For the patient with imperforate anus, we should evaluate not only anorectal function, but also the genitourinary tract in order to preserve renal function and fertility.     

High-pouch imperforate anus treated by electromagnetic bougienage and subsequent perineal repair.

Four male infants with imperforate anus were treated by electromagnetic bougienage and subsequent perineal anoplasty with division of rectourethral fistula. Each had high-pouch imperforate anus of the supralevator type, with rectourethral fishtula at or above the level of the membranous urethra. Perineal anoplasty was accomplished in all four, with division of the rectourethral fistula, avoiding the need to do a sacral-abdominal-perineal procedure, as had been customary previously in similar cases.     

Percutaneous transperineal pouch localization in low imperforate anus: a new approach

Patients who have an imperforate anus with associated infralevator, or low rectal pouch, are candidates for a perineal anoplasty. However, in the absence of a perineal fistula, intraoperative localization and isolation of the rectal pouch can be difficult. We have developed a technique to facilitate isolation and dissection of the rectal pouch for perineal anoplasty in patients with a low imperforate anus who do not have a perineal fistula present. Pouch localization is carried out preoperatively by fluoroscopic percutaneous transperineal placement of a Fogarty embolectomy catheter through the center of the anal wink. We have used this technique successfully in four consecutive patients who had a low imperforate anus, in the absence of a perineal fistula, with the pouches 1.0 to 1.5 cm from the perineum. Results have been excellent, and the dissection of the rectal pouch was facilitated greatly by the presence of the inflated Fogarty balloon.     

重建肛门外括肌和直肠肛管角治疗先天性肛门闭锁肛门成形术后大便失禁(附32例报告)

目的:观察重建肛门外括肌和直肠肛管角治疗先天性肛门闭锁肛门成形术后大便失禁的临床疗效。方法:对32例先天性肛门闭锁肛门成形术后大便失禁患者用股薄肌重建肛门外括肌并重建直肠肛管角。结果:32例患者术后随访1年,肛门功能优19例,良9例,较好4例,无效者未发现,总满意率为87·5%(28/32)。结论:用股薄肌重建肛门外括肌并重建直肠肛管角,术后患者肛门功能满意率高,患者生活质量明显提高。