Association of anorectal malformation and intestinal malrotation.

BACKGROUND: Patients born with anorectal malformations (ARM) frequently have other congenital anomalies that are well-defined; however, limited data exist examining the relationship of ARM with malrotation. METHODS: A 10-year retrospective review was performed to examine all patients treated at a regional children's medical center with a diagnosis of ARM. Data were collected to identify malrotation, vertebral, anorectal, cardiac, tracheo-esophageal fistula, renal, radial, limb (VACTERL) anomalies, the type of ARM, operative procedures performed, and long-term bowel management. RESULTS: One hundred forty-six patients were identified. Upper gastrointestinal evaluation was performed in 21 patients (14.4%), while contrast enemas were performed in 22 patients (15.1%). Seven patients were found to have malrotation (4.8%) and 6/7 of these patients had 2 or more VACTERL anomalies. CONCLUSIONS: Patients with ARM and 2 or more VACTERL anomalies should undergo screening for malrotation. Patients with intestinal malrotation, ARM, and poor potential for bowel control should have their appendix preserved during a Ladd's procedure.

Peristeen integrated transanal irrigation system successfully treats faecal incontinence in children.

OBJECTIVE: Faecal incontinence secondary to myelomeningocele, Hirschsprung disease, and anorectal anomalies remains a significant and common problem. We aimed to report our 5-year experience with the Peristeen trans-anal irrigation system (TAIS) to manage such children. PATIENTS AND METHOD: This study was a combination of a retrospective case note review and assessment using a validated quality of life questionnaire (QOL) to determine pre- and post-TAIS bowel function and continence. QOL scores and functional outcomes before and during TAIS use were compared using Wilcoxon matched pairs test (p < 0.05 significant). RESULTS: Twenty-four children (median age 6 years) were managed with the TAIS 2006-2011 to treat faecal incontinence. Three did not tolerate the system. Median QOL scores in 20 out of 21 patients using TAIS demonstrated significant improvement in bowel management and continence. Two discontinued use due to failure to improve continence; one underwent the Malone antegrade continence enema (MACE) procedure and one returned to oral/rectal medications. Nineteen of 24 patients (79%) continue to use TAIS. CONCLUSIONS: The Peristeen TAIS is an effective, safe, non-operative alternative to MACE in children with faecal incontinence, if initial compliance can be achieved.

Sacral nerve stimulation is a valuable diagnostic tool in the management of anorectal and pelvic malformations.

BACKGROUND: We hypothesize that the current practice of sphincter assessment in anorectal malformations (ARMs) by direct muscle stimulation can be improved by sacral nerve stimulation (SNS). Focusing on the specific adjustments for infants, we highlight the anatomical and neurophysiologic basis of SNS and its further diagnostic and therapeutic implications. PATIENTS AND METHODS: We examined 20 patients: 12 patients with ARM, 3 with Hirschsprung disease, 3 with sacrococcygeal teratoma, and 2 with cloacal exstrophies. Under general anesthesia and ultrasound guidance, percutaneous needle electrodes were placed within the sacral neural foramina. Electrical stimulation was applied to assess the presence, pattern, and extent of the neuromuscular response of the external anal sphincter. RESULTS: We successfully modified the traditional method used in adults replacing radiographic controls by ultrasound guidance. In 20 SNS procedures with no complications, we found a muscle response on stimulation of the third and/or fourth sacral nerves in 18 of 20 patients (anal sphincter contraction and/or ipsilateral plantar flexion). CONCLUSION: We demonstrated the feasibility of SNS for intraoperative sphincter mapping and detection of primary innervation abnormalities in ARM as well as for the assessment of secondary deficits in postoperative follow-up. Sacral nerve stimulation broadens the spectrum of intraoperative information concerning the sacral innervation pattern by a direct assessment of the sacral nerves. Furthermore, electrophysiologic data may allow prospective criteria for sphincter function to be established. These may improve the accuracy of the present classification-based prognosis as well as the understanding of sphincter physiology in general.

The appendix as a conduit for antegrade continence enemas in patients with anorectal malformations: lessons learned from 163 cases treated over 18 years.

INTRODUCTION: The antegrade continence enema (ACE) has been shown to be a safe and effective method for managing fecal incontinence in the pediatric population. The purpose of this study was to examine our experience with the ACE procedure using the appendix as a catheterizable conduit in children with anorectal malformations (ARMs). METHODS: We reviewed the charts of all patients who underwent an ACE procedure using the appendix as a catheterizable conduit between January 1992 and January 2010. Preoperative diagnosis (ARM type), operative details, functional outcomes, and postoperative complications were assessed. Technical modifications over time included selective cecoplication, implementation of the umbilical V-V appendicoplasty technique, and laparoscopy for cecal mobilization. RESULTS: Mean age was 9.9 ± 0.6 years, and 67% were male. The most common preoperative diagnosis was rectourethral fistula in boys (39%) and persistent cloaca in girls (61%). Forty-five complications occurred in 41 patients with an overall incidence of 25.6% (stricture, 18%; leakage, 6%; prolapse, 4%; intestinal obstruction, 0.6%). The incidence of stomal leakage was lower in patients when a cecoplication was performed (2.9% [4/138] vs 29.4% [5/17]; P < .01), and the incidence of stricture was lower in patients when the umbilical anastomosis was created using the V-V appendicoplasty technique (11% [11/100] vs 30% [18/60]; P < .01). Successful management of incontinence was reported by 96% of all patients. CONCLUSIONS: The ACE procedure using the umbilical V-V appendicoplasty provides an effective and cosmetically superior means for bowel management in children with ARMs. The rate of late complications is not insignificant however, and preventative strategies should focus on careful operative technique and ensuring compliance with catheterization protocols well past the initial postoperative period.

The efficacy of external neuromyogenic stimulation on neuromuscular anorectal incontinence.

AIM: This study reports on the preliminary results of external neuromyogenic electrostimulation (ENS) for the treatment of anorectal continence problems. PATIENTS AND METHODS: A total of seventeen patients with anorectal malformations (n=11), Hirschsprung's disease (n=5) or pelvi-perineal trauma (n=1) were included in the study. All patients were evaluated using clinical, radiological, and manometric methods prior to ENS. The Holschneider Continence Scale and the Quality of Life (QOL) Score were used for clinical assessment. The ENS stimulator is a two-channel ambulatory device providing a pulse current. ENS was performed by parents in a home setting twice daily for 6 weeks using skin electrodes attached to the sides of the anus. Three of the 11 preset programs were used (lack of sensitivity, pelvic floor work out and building up endurance). Clinical and manometric variables were reevaluated following completion of the 6-week program. RESULTS: Mean age was 9.7 years (range 5-22 years). The Holschneider Continence Score increased from a mean value of 5.3+/-3.2 to 12.4+/-1.7 (p=0.002) and mean QOL scores increased from 5.6+/-2.3 to 11.6+/-1.8 (p=0.01) following ENS. Mean anal canal resting pressures prior to ENS were 20.3+/-6 cmH (2)O and increased to 28.7+/-14.1 cmH (2)O after 6 weeks (p>0.05). Maximum voluntary squeeze pressures before and after ENS were 56.1+/-16.7 cmH (2)O and 100.7+/-16.9 cmH (2)O respectively (p=0.001). CONCLUSION: Preliminary results for ENS have shown that patients achieved higher maximum voluntary squeeze pressures, and showed a marked improvement in their continence and QOL scores. Given the advantage of ambulatory use in a home setting, the ENS seems promising in terms of achieving improved anorectal continence in selected patients.

[Fecal incontinence: therapy of congenital sphincter dysplasia in adulthood--a case report]. / Stuhlinkontinenz: Therapie der kongenitalen Sphinkterdysplasie im Erwachsenenalter--ein Fallbeispiel.

The dynamic graciloplasty has gained acceptance in the therapy of intractable fecal incontinence. With a success-rate of 60 to 80%, the dynamic graciloplasty is a good alternative towards a permanent colostomy for individual cases. Furthermore, adults suffering from congenital anal atresia may be well treated by this therapy as described in this case. Following surgery, an accurate follow-up is inevitable in these patients, including training of neosphincter control. After 8 to 12 weeks the training-process of the neosphincter-control should be finished. At this point of time the patient will have obtained defecation-control and should be able to execute voluntary defecations.

Restoration of fecal continence with chronic electrostimulation of gracilis muscle 17 years after a Pickrell's operation.

A 27-year-old woman who had undergone a Pickrell's operation at the age of 10 years, was observed for severe incontinence to solid and liquid stools. Physical examination and physiological tests revealed poor resting anal tone but a very good response of the transposed gracilis to percutaneous electrostimulation, which showed that the gracilis ability to contract was maintained in spite of 17 years of only occasional and unplanned muscular activity. Examination also demonstrated that the muscle had followed body growth during the patient's development. Restoration of continence by continuous electrostimulation of the gracilis muscle was then planned. To allow muscular resistance to this stimulation a fast-to-slow twitch fiber conversion was first obtained by low-frequency electrostimulation. A subcutaneous abdominal implant of a pulse generator connected to the gracilis by intramuscular platinum-iridium electrodes was carried out. After a period of muscular training, fiber conversion was achieved, and continuous electrostimulation led to complete restoration of continence with stable results at the 36 month follow-up evaluation. This case demonstrates that even such a long period of muscular inactivity does not affect the possibility of recovering a failed Pickrell's operation using electrostimulation. This easy and safe procedure can be applied to all previously failed graciloplasties provided that muscle contractility is maintained.

The spectrum of imaging in Currarino triad.

The aim of this study was to evaluate the spectrum of findings and the efficacy of different imaging modalities in order to formulate recommendations for diagnostic imaging of Currarino triad (ASP syndrome), including screening of relatives. The imaging films of five female patients (age range 6 weeks to 12 months) were analysed retrospectively. The studied material consisted of US and MRI of the lower spine (5 patients each), lumbosacral plain radiography (4 patients), contrast enema (4 patients), urinary US (2 patients), genitography (1 patient) and myelo-CT (1 patient). Depiction of pathological findings with different imaging modalities was reviewed and validated with special respect to their demonstrability by US. Ultrasonography detected the sacral bony defect as well as the presacral pathology (meningocele and/or tumour) and thereby gave the basic diagnosis in all of the cases. It also depicted tethered cord and urinary tract abnormalities correctly. Magnetic resonance imaging gave a more distinct visualization of pre- and intraspinal pathology with additional demonstration of intraspinal lipoma in two cases. Regarding anorectal and genital malformations, radiographic contrast agent studies had been used in all patients. Two blind-ending retrorectal fistulas, depicted by enema, were missed by MRI. Patients with congenital or early infancy obstipation, anorectal malformations and complex urinary tract malformations should have spinal and pelvic sonography first. A plain film of the sacrum is recommended in equivocal cases. The need for MRI and contrast agent studies depends on the individual pathology, whereas presently MRI has made further radiographic imaging increasingly dispensable. A screening program with lumbosacral US or plain radiography for families with Currarino triad should be obligatory.

Anterior sagittal anorectoplasty as a redo operation for imperforate anus.

Based on the idea of transsphincteric approach by Peña, we applied anterior sagittal anorectoplasty (ASARP) as a redo operation in 10 patients, who present moderate to severe fecal incontinence postoperatively. Those patients exhibited anal opening located anteriorly to the center of contraction of external sphincter muscles. Operation is begun with making a circumferential skin incision in the mucocutaneous junction around the anal opening, extending posteriorly along the median line to the center of the external sphincter muscles. Upon confirming the vertical muscle and the external sphincter muscles, the rectal tube, being dissected free, is mobilized backward to be placed at the center of the vertical muscles and enclosed by the muscle. After the operation, an improvement was noted in either clinical symptoms or scores, being particularly marked for incontinence and staining scores. Anorectal manometry and barium enema studies also showed a significant improvement. These results provide ample justification of ASARP as a redo operation for imperforate anus being worthwhile trying in properly selected patients with poor anorectal function following the primary operation.