Manometric findings in relation to functional outcomes in different types of anorectal malformations.

AIMS: To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. METHODS: A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. RESULTS: 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. CONCLUSIONS: Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. LEVEL OF EVIDENCE: III.

Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Long-term bowel functional outcomes in rectourethral fistula treated with PSARP: controlled results after 4-29 years of follow-up: a single-institution, cross-sectional study.

BACKGROUND/PURPOSE: Posterior sagittal anorectoplasty (PSARP) has become the standard surgical treatment for males rectourethral fistula (RUF) at most surgical centers worldwide. We aimed to define the long-term bowel functional outcomes following PSARP for RUF at our institution between 1983 and 2006, with comparison to age- and gender-matched controls. METHODS: Patients were invited to answer a detailed, previously validated Bowel Function Score (BFS) questionnaire by post. Respondents were matched by age and gender to three controls from the general population who had answered identical questionnaires. Case records were reviewed retrospectively for operative details. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents <1/week and no requirement for changes of underwear or protective aids. RESULTS: Of 34 (79%) respondents (median age 19 (range, 4-29) years), 74% had voluntary bowel movements (VBMs), 24% were reliant on anterograde continence enema (ACE) washouts, and 1 patient had a colostomy. Impairment of bowel function was significantly higher in all aspects of fecal control among patients than controls (p<0.001). A statistically significant decline in fecal accidents and soiling was observed with age (p ≤ 0.03). Thirty-one percent of patients with VBMs had constipation managed with diet or laxatives (vs 2% of controls, p=0.0002). Of patients with VBMs followed up for > 12 years (n=20), 50% were completely continent (vs 73% of controls; p=NS). Overall, 76% of respondents were socially continent with or without artificial means in the form of ACE washouts. By BFS score, 39% had a good functional outcome, 27% had a moderate outcome, 9% had a clearly poor score and 24% were living with an ACE. CONCLUSIONS: Our results suggest that in the long-term, functional symptoms remain highly prevalent among patients treated for RUF with PSARP. However, the majority can be expected to achieve social continence, although for some this will require intervention with ACE bowel management. Approximately one third may report VBMs and complete continence.

Rectopexy for paediatric rectal prolapse: good outcomes but not without postoperative problems.

PURPOSE: Rectopexy is a simple treatment of persisting complete rectal prolapse (RP) or related functional disorders in children. The results of rectopexy have been encouraging with few complications. We describe the postoperative complications and outcome of rectopexy in our institution from 2002 to 2013. METHODS: Ethical committee accepted the study. Hospital records of 27 successive patients (16 males), median age 7.2 (range 2.8-17) years, who underwent rectopexy (25 laparoscopic, 2 open) were reviewed. Indication for rectopexy included RP (n = 24), solitary rectal ulcer with enterocele (n = 2) and rectocele (n = 1). Nine patients (39 %) were healthy. In the remaining 14 patients, RP was secondary to anorectal malformation (n = 2), bladder exstrophy (n = 1), sacrococcygeal teratoma (n = 1) and myelomeningocele (n = 1) or associated with mental retardation (n = 8) and Asperger's syndrome (n = 1). Five (18 %) patients had constipation. Unexpected postoperative events and complications were rated by Clavien-Dindo classification (Grades I-V). RESULTS: Seventeen (61 %) patients had postoperative complications (Grade I n = 5, II n = 2 and III n = 7). Readmission was required in 11 (41 %) and reoperation, endoscopy or other surgical procedure in 9 (33 %) patients. Complications included severe faecal obstruction (n = 2), constipation (n = 3), faecal soiling (n = 1) urinary retention (n = 2), enuresis (n = 1), infection (n = 2), residual mucosal prolapse (n = 5), discomfort at defecation (n = 1) and recurrent RP (n = 2). Reoperations included sigmoid resection with re-rectopexy (n = 1), resection of mucosal prolapse (n = 1), suprapubic urinary catheter (n = 2), evacuation of faecal impaction (n = 2), colonoscopy (n = 3), appendicostomy for antegrade continence enema (n = 1). Mental retardation or behavioural disorder increased the risk of postoperative faecal obstruction and constipation RR = 84 (95 % CI 4.3-1600), p = 0.0035. After median follow-up of 4.1 (range 0.6-11) years RP or related condition was cured in 26 patients. Constipation and faecal soiling require management in a total of seven patients. CONCLUSIONS: Long-term results of rectopexy were good. Postoperative complications from mild to moderate grade were unexpectedly frequent. Preoperative neurobehavioural disorder and constipation increase the risk of postoperative problems and should be mentioned in patient counselling.

Surgical treatment and outcomes of severe pediatric intestinal motility disorders requiring parenteral nutrition.

AIM: The aim of this study was to characterize outcomes of children with severe intestinal motility disorders (IMD) requiring parenteral nutrition (PN). METHODS: Twenty consecutive children with primary IMD requiring long-term PN between 1984 and 2010 were included. Median (interquartile range) follow-up was 13.1 (5.2-20.1) years. Treatment, PN dependence, growth, nutritional status, liver function, and survival were assessed. RESULTS: Underlying etiology included chronic intestinal pseudo obstruction (CIPO; n=8) and Hirschsprung disease with extensive aganglionosis (n=12). CIPO and aganglionosis patients had 100 (86-100%) and 29 (19-40%) of age-adjusted small bowel length remaining, respectively. In order to facilitate enteral tolerance and avoid PN-associated liver disease, short aganglionic segment (40 cm) was left in situ in four of five cases, with aganglionosis extending to duodenojejunal flexure combined with Ziegler myectomy-myotomy in two. Six of seven children with aganglionosis extending into mid small intestine underwent staged jejunoanal pull-through. Feeding/venting gastrostomies (n=13) or jejunostomies were commonly employed. Probability of PN dependence owing to IMD was markedly increased in relation to short bowel syndrome (70 versus 19% at 5 years, P<0.0001). Two (10%) patients developed end-stage liver disease. A total of 11 (55%) patients (5 CIPO and 6 aganglionosis) weaned off PN after 8.2 years (1.8-17 years), including two patients after intestinal transplantation (ITx). Two children died before ITx-era giving overall survival of 90%. Survivors had well-preserved liver function, growth, and nutritional status. CONCLUSIONS: Despite high PN dependence, long-term survival is achievable in the majority of children with IMD requiring PN. A wide repertory of surgical options including ITx is required for optimal outcomes.

Effects of long-term parenteral nutrition on serum lipids, plant sterols, cholesterol metabolism, and liver histology in pediatric intestinal failure.

BACKGROUND AND OBJECTIVE: Plant sterols (PS) in parenteral nutrition (PN) may contribute to intestinal failure-associated liver disease. We investigated interrelations between serum PS, liver function and histology, cholesterol metabolism, and characteristics of PN. PATIENTS AND METHODS: Eleven patients with intestinal failure (mean age 6.3 years) receiving long-term PN were studied prospectively (mean 254 days) and underwent repeated measurements of serum lipids, noncholesterol sterols, including PS, and liver enzymes. PS contents of PN were analyzed. Liver biopsy was obtained in 8 patients. Twenty healthy children (mean age 5.7 years) served as controls. RESULTS: Median percentage of parenteral energy of total daily energy (PN%) was 48%, including 0.9 g · kg(-1) · day(-1) of lipids. Respective amounts of PN sitosterol, campesterol, avenasterol, and stigmasterol were 683, 71, 57, and 45 µg · kg(-1) · day(-1). Median serum concentrations of sitosterol (48 vs 7.5 µmol/L, P < 0.001), avenasterol (2.9 vs 1.9, P < 0.01), stigmasterol (1.9 vs 1.2, P < 0.005), but not that of campesterol (9.8 vs 12, P = 0.22), were increased among patients in relation to controls, and correlated with PN% (r = 0.81-0.88, P < 0.005), but not with PN fat. Serum cholesterol precursors were higher in patients than in controls. Serum liver enzymes remained close to normal range. Glutamyl transferase correlated with serum PS (r = 0.61-0.62, P < 0.05). Liver fibrosis in 5 patients reflected increased serum PS (r = 0.55-0.60, P = 0.16-0.12). CONCLUSIONS: Serum PS moderately increase during olive oil-based PN, and correlate positively with PN% and glutamyl transferase. Despite well-preserved liver function, histology often revealed significant liver damage.

Anorectal manometry with reference to operative rectal biopsy for the diagnosis/exclusion of Hirschprung's disease in children under 1 year of age.

AIMS: To establish the accuracy of anorectal manometry (ARM) with reference to operative rectal biopsy in the investigation of children under 1 year of age with defaecation difficulties. MATERIALS AND METHODS: The records of all infants who underwent ARM and operative rectal biopsy at our centre between 1994 and 2007 were reviewed. ARM was performed by a consultant paediatric surgeon in each and under ketamine anaesthesia, as operative rectal biopsy was taken. RESULTS: There were 81 patients (49 males, 32 females). The median age at investigation was 2 months (range 0.1-11 months). Thirty-three patients (41%) had Hirschprung's disease. No patient with a normal recto-anal inhibitory reflex (RAIR) had Hirschprung's disease (100% negative predictive value). No patient with Hirschprung's disease exhibited a reflex (100% sensitivity). The specificity and positive predictive value of ARM for Hirschprung's disease were 83% and 80%, respectively. Bowel habit normalised in 88% of patients with a reflex within 1 year. CONCLUSIONS: In children under 1 year of age, Hirschprung's disease is very unlikely in the presence of a RAIR. The specificity and positive predictive value of ARM for the diagnosis of Hirschprung's disease are inferior to those of rectal suction biopsy, and therefore, it cannot be recommended for use as a sole diagnostic tool for this disease. ARM may be a useful investigation in patients where the histologic specimen is inadequate and/or functional constipation is the most likely diagnosis. If RAIR is present, rectal biopsy may not be required.

Functional fecal soiling without constipation, organic cause or neuropsychiatric disorders?

BACKGROUND: The aetiology of fecal incontinence in children has traditionally been attributed to idiopathic constipation, structural defects or neuropsychiatric disorders. We describe a new subgroup of otherwise healthy children who have fecal soiling without any underlying cause for the incontinence. METHODS: The hospital records of children with fecal incontinence were screened to detect patients without any history, signs or symptoms of constipation or an organic, neurological or psychiatric cause for the incontinence. Anorectal manometry findings were compared with those of age-matched children with idiopathic constipation and soiling. RESULTS: Eight boys and 5 girls were identified. The median age at diagnosis was 7.9 years. Soiling had lasted median of 4.1 years, occurred at least every other day in 9, at least once a week in 2 and occasionally in 2 and required change of underwear or use of protective pads. Abdominal x-ray and barium enema showed normal findings. Sacral x-ray and/or MRI of the spinal cord showed normal bony spine and spinal cord. Five children had coexisting night and/or daytime wetting. Impaired rectal sensation was the only identifiable abnormality that was detected. The median volume required for the first sensation was 45 mL (range, 15-100 mL; normal, <15 mL). Anorectal manometry alone was unable to differentiate patients with functional fecal soiling from those with idiopathic constipation associated soiling. The median follow-up time after the diagnosis was 9.1 months. Treatment of fecal soiling consisted of education, dietary modification or stimulatory laxatives to establish regular toileting routines. Treatment improved fecal continence in 6 out of 8 cases with follow-up longer than 6 months. CONCLUSIONS: There is a small subgroup of children with fecal soiling who are otherwise healthy without constipation or any other underlying cause for the incontinence. These children seem to have isolated impairment of rectal sensation. In most, the prognosis is good with conservative treatment.

Are cecal wrap and fixation necessary for antegrade colonic enema appendicostomy?

INTRODUCTION: In antegrade colonic enema (ACE) appendicostomy, cecal fixation on the inside of the abdominal wall and cecal wrap around the base of the appendix are often performed as an antireflux procedure. Whether cecal fixation and wrap and fixation (FW) are necessary is not known. In a retrospective study, we compared laparoscopic and open procedure with FW (LACEfw+ and OACEfw+) with laparoscopic procedure without FW (LACEfw-). MATERIALS AND METHODS: Between 1997 and 2004, 44 consecutive patients underwent an ACE appendicostomy for fecal incontinence. Eleven patients (1997-2000) had OACEfw+, 14 patients (2001 to 2003) had LACEfw+, and nineteen (2003-2004) had LACEfw-. The primary disorders included meningomyelocele (n = 17), imperforate anus (n = 12), sacral agenesis (n = 1), presacral teratoma (n = 1), osteosarcoma (n = 1), diastematomyelia (n = 1), tuberose sclerosis (n = 1), Hirschsprung's disease (n = 2), Down syndrome-associated refractory constipation (n = 1), Jacobsen syndrome (n = 1), and chronic constipation (n = 1). Twenty-eight patients had undergone previous abdominal surgery. Operative time, theatre time, length of hospitalization, and complications related with procedure and stoma were compared among the 3 groups. RESULTS: Age and age-adjusted body mass index did not differ statistically among the 3 groups. One LACEfw+ and 2 LACEfw- were converted. The median operative time was 38 minutes (range, 23-65 minutes) for OACEfw+, 78 minutes (50-135 minutes) for LACEfw+, and 40 minutes (25-120 minutes) for LACEfw- (P < .05). The median theatre time for OACEfw+ was 71 minutes (range, 50-107 minutes), for LACEfw+ 123 minutes (range, 70-173 minutes), and for LACEfw+ 75 minutes (57-160 minutes) (P < .05). The median length of hospitalization was 6 days (range, 3-8 days) for OACEfw+, 5 days (4-6 days) for LACEfw+, and 4 days (2-9 days) for LACEfw- (P < .05). Stomal revisions were required in 6 of 10 patients with open ACE, 7 of 14 patients with LACEfw+, and 2 of 19 patients with LACEfw-; stomal leak occurred in 3 of 11, 3 of 14, and 0 of 19 patients, respectively. Median follow-up time was 62 months (range, 36-94 months) for OACEfw+, 28 months (25-36 months) for LACEfw+, and 9 months (1-20 months) for LACEfw-. CONCLUSION: Operative time for LACEfw+ was twice as long as that of LACEfw- and OACEfw+. Hospital time was shortest in LACEfw-. Stomal complications occurred in all 3 procedures. After a medium time follow-up, it appears that FW is unnecessary for ACE appendicostomy.