Analysis of the potential risk factors for defecation problems and their bowel management based on the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.

AIM OF THE STUDY: We conducted a nationwide survey of persistent cloaca (PC) to determine its current status in Japan. This study clarifies the potential risk factors for defecation problems in patients with PC. METHODS: Patient information was obtained via questionnaire, and a total of 213 PC patients who responded to a questionnaire on defecation problems and their bowel functions were enrolled in this study. We evaluated the constipation, incontinence, and soiling as bowel functions. Univariate and multivariate analyses were performed using a logistic regression analysis to clarify the risk factors for defecation problems. RESULTS: Of 213 patients with PC, 55 (25.8%) had defecation problems. A multivariate logistic regression analysis showed that sacral agenesis, as an associated anomaly, was significantly associated with defecation problems (odds ratio [OR] 3.19, 95% confidence interval [CI] 1.11-9.16, p = 0.03). The other multivariate logistic regression analysis showed that the PC patients who underwent antegrade continence enema and regularly took laxatives after anorectoplasty had defecation problems (OR 12.4, 95% CI 2.35-65.6, p = 0.003, OR 2.84, 95% CI 1.24-6.55, p = 0.01). CONCLUSION: Sacral agenesis is the potential risk factor of defecation problems in the patients with PC who underwent anorectoplasty. Those patients require vigorous defecation management.

A case of Currarino syndrome in an adult female presenting with refractory chronic constipation.

We present the case of a 25-year-old female who presented due to refractory chronic constipation and fecal incontinence. She had bowel movements every 7-30 days with an increased consistency (1-2 Bristol type stools), together with soiling and passive fecal incontinence (Wexner Scale: 12/20). She had previously undergone surgery shortly after birth for an anorectal malformation repair. The colonoscopy and histological study of the rectum were normal. A pelvic magnetic resonance imaging (MRI) was performed, which showed a right pararectal mass that compressed the rectum without invading it. This mass was compatible with a presacral teratoma or hamartoma. MRI also revealed coccyx agenesis and hypoplasia of the last sacral vertebrae (Image 1), which were consistent with Currarino syndrome (CS). The patient received 14 sessions of transcutaneous electrostimulation of the posterior tibial nerve, resulting in an increase in bowel movements (every 3 days) and a reduction in fecal incontinence. She was then referred to surgery for presacral mass removal.

Partial Malrotation of Bowel Loops in an Adolescent with Left Hypochondrial Pain.

In the embroyological development, any deviation from physiological midgutrotation results in intestinal malrotation, which may further cause midgutvolulus or intestinal obstruction. It is predominantly a pediatric diagnosis; however, it may occur in adolescent or adult life. A case is presented here of a 17-year boy who came in Accident and Emergency Department, Abbasi Shaheed Hospital with complaint of intermittent and severe intensity pain in left upper quadrant of abdomen. Screening ultrasound abdomen was done, which was unremarkable; then he underwent Doppler evaluation of upper abdomen. Doppler ultrasound depicted abnormal vertical orientation of superior mesenteric vessels. He underwent barium enema, which revealed features of intestinal malrotation. He was further investigated with contrast-enhanced CT abdomen for complications, which confirmed the aforementioned abnormal orientation of superior mesenteric vessels and diagnosis of intestinal malrotation without any complication. In summary, any non-specific abdominal complaint with or without intestinal obstruction in an adolescent or adult patient should be investigated for the possibility of intestinal malrotation.

Obstrucción intestinal neonatal secundaria a duplicación cecal / Neonatal intestinal obstruction due to cecal duplication

Introducción. Las duplicaciones de ciego son patologías poco frecuentes, representando el 0,4% de las duplicaciones intestinales, existiendo pocos casos publicados. Caso clínico. Presentamos un caso de una recién nacida de 48 horas de vida con vómitos biliosos y distensión abdominal; en las pruebas de imagen, se observa una masa quística de 30 mm de diámetro en flanco derecho; en la laparotomía se comprueba una tumoración quística localizada en ciego; se realiza resección ileocólica con anastomosis término-terminal. El estudio anatomopatológico confirma la existencia de un quiste de duplicación cecal. Comentarios. En pacientes con obstrucción intestinal, el enema opaco permite realizar el diagnóstico diferencial con otras patologías cólicas del periodo neonatal; cuando el quiste de duplicación cecal no se encuentra comunicado con la luz del colon, se puede observar un defecto de repleción, lo que junto con otras pruebas y la clínica, nos puede hacer sospechar duplicación cecal. Se recomienda realizar una intervención quirúrgica temprana, incluso en pacientes asintomáticos, para disminuir la morbilidad

Cecal duplications are rare, representing 0.4% of all gastrointestinal duplications, with few cases reported in the literature. A 48 hours-old newborn presented with bilious vomiting and abdominal distension; the ultrasound revealed a cystic mass in the right abdomen; ileocolic resection was performed with end to end anastomosis. Microscopy confirmed cecal duplication cyst. In patients with intestinal obstruction, contrast enema allows differential diagnosis with other colonic pathologies in the newborn; when the cecal duplication cyst is connected to the lumen of the colon, enema reveals a filling defect, and cecal duplication can be suspected. Although cystic lesions are asymptomatic, they should be excised when detected to prevent complications

Malrotation of midgut in adults, an unsuspected and neglected condition--An analysis of 64 consensus confirmed cases.

INTRODUCTION: Malrotation of midgut is considered to be a condition of childhood. This study evaluated malrotation in adults with recurrent abdominal pain (RAP). METHODS: Sixty-four consensus-confirmed cases of intestinal malrotation were reviewed. The diagnosis was based on radiological criteria, and the consensus was arrived at by at least three of the five authors in any individual case. RESULTS: Abnormal duodenojejunal junction (DJJ) was a consensus finding in 64 cases referred for RAP. Most were in their fourth decade of life, and 12 were beyond 60 years. Besides RAP, intolerance to food was the next common symptom. Acute intestinal obstruction was seen in 16. Forty-two of 64 patients consented for surgery. Ladd's procedure was the commonest. All patients who underwent surgery were symptom free except for two, of which, one had liver cyst and the other had hernia. Of those who refused surgery (22), all had continued symptoms and 10 patients took alternative therapies. On follow up of initially unwilling patients (for surgery) with abnormal DJJ, only eight consented for surgery; three underwent open Ladd's procedure, and one had laparoscopic Ladd's done. CONCLUSION: Malrotation is not uncommon as a cause of RAP in adults.

Currarino's syndrome in twins presenting as neonatal intestinal obstruction--identical presentation in non-identical twins.

We report a case of non-identical twins who presented with identical neonatal intestinal obstruction with features of anorectal stenosis, presacral mass and sacral anomaly consistent with Currarino's syndrome or triad. Plain sacral radiograph, contrast enema and MRI were diagnostic. Initial management involved a defunctioning colostomy followed by a posterior sagittal anorectoplasty with excision of the teratoma ± anterior sacral meningocele and finally closure of colostomy in a staged multidisciplinary approach. The twins' father is also affected with features of Currarino's syndrome but was diagnosed during family screening. Currarino's syndrome presenting with identical neonatal low intestinal obstruction in a non-identical set of twins is rare and interesting. Antenatal diagnosis of Currarino's syndrome is difficult and may prove to be a challenge even in the postnatal period. Sacral spine radiograph, contrast enema and MRI are diagnostic. Management requires high index of suspicion, low threshold for MRI and multidisciplinary staged approach.

An unexpected cause of small bowel obstruction in an adult patient: midgut volvulus.

The most important complication of intestinal malrotation is midgut volvulus because it may lead to intestinal ischaemia and necrosis. A 29-year-old male patient was admitted to the emergency department with abdominal pain. Ultrasonography (US), colour Doppler ultrasonography (CDUS), CT and barium studies were carried out. On US and CDUS, twisting of intestinal segments around the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) and alteration of the SMA-SMV relationship were detected. CT demonstrated that the small intestine was making a rotation around the SMA and SMV, which amounted to more than 360°. The upper gastrointestinal barium series revealed a corkscrew appearance of the duodenum and proximal jejunum, which is a pathognomonic finding of midgut volvulus. Prior knowledge of characteristic imaging findings of midgut volvulus is essential in order to reach proper diagnosis and establish proper treatment before the development of intestinal ischaemia and necrosis.

Vitamin D hormone regulates serotonin synthesis. Part 1: relevance for autism.

Serotonin and vitamin D have been proposed to play a role in autism; however, no causal mechanism has been established. Here, we present evidence that vitamin D hormone (calcitriol) activates the transcription of the serotonin-synthesizing gene tryptophan hydroxylase 2 (TPH2) in the brain at a vitamin D response element (VDRE) and represses the transcription of TPH1 in tissues outside the blood-brain barrier at a distinct VDRE. The proposed mechanism explains 4 major characteristics associated with autism: the low concentrations of serotonin in the brain and its elevated concentrations in tissues outside the blood-brain barrier; the low concentrations of the vitamin D hormone precursor 25-hydroxyvitamin D [25(OH)D3]; the high male prevalence of autism; and the presence of maternal antibodies against fetal brain tissue. Two peptide hormones, oxytocin and vasopressin, are also associated with autism and genes encoding the oxytocin-neurophysin I preproprotein, the oxytocin receptor, and the arginine vasopressin receptor contain VDREs for activation. Supplementation with vitamin D and tryptophan is a practical and affordable solution to help prevent autism and possibly ameliorate some symptoms of the disorder.

Waugh syndrome: a report of 7 patients and review of the published reports.

BACKGROUND AND OBJECTIVES: Waugh syndrome (WS) is the association of intussusception and intestinal malrotation. The association is rarely reported in the literature though intussusception is a commonly encountered problem in pediatric patients as a cause of intestinal obstruction. We present our experience in 7 patients with a review of published reports. DESIGN AND SETTING: Retrospective analysis of 7 patients with the diagnosis of Waugh syndrome who were treated at our department between February 1982 to December 2012. PATIENTS AND METHODS: Seven patients with Waugh syndrome presented to our unit during the period February 1982 to December 2012. The clinical findings and management are presented and discussed. RESULTS: Seven patients (three males and four females) presented with intussusception in association with mal.rotation. The age range was from 4 to 11 months; the patients had bilious vomiting and blood in the stool; the diagnosis was confirmed by ultrasound (2), Ba enema (2) and intraoperatively (3). All required operative intervention; either manual reduction or bowel resection and Ladd procedure; one patient died of sepsis; recurrence of obstruction was seen in another patient while the rest did well postoperatively. CONCLUSION: The relationship between intestinal malrotation and intussusceptions may be more frequent than is reported; failure of non-operative management of intussusception may be due to this association and hence brings the attention to its existence. A prospective study is needed to look for intestinal malrotation in patient with intussusceptions who undergo abdominal sonographic examination to determine the true incidence of this association. The anomaly is suspected by presence of a reversed anatomic relationship of the superior mesenteric artery and vein and in such cases to perform an upper gastrointestinal contrast study to define the exact location of the duodenojejuonal (DJ).

Acute colonic obstruction from Ladd bands: a unique complication from intestinal malrotation.

In patients with intestinal malrotation, Ladd bands are known to cause obstruction of the duodenum and small bowel. However, acute obstruction of the colon from Ladd bands has not been previously described. We report a case of complete obstruction of the hepatic flexure of the colon secondary to a Ladd band in a previously healthy teenage boy.

Update on pediatric faecal incontinence.

PURPOSE: Faecal incontinence represents a devastating problem; it is often a barrier to social acceptance. It can affect many children including those with prior surgery (for anorectal malformations and Hirschsprung's disease) as well as those with spinal problems or injuries. Management involves distinguishing between true and pseudo-incontinence, and then determining the proper protocol of treatment. METHODS: An extensive review of the authors' series of over 500 patients who presented with soiling was undertaken with the goal of determining helpful algorithms of treatment. RESULTS: Treatment begins first with proper categorisation of patients. Pseudo-incontinence (encopresis) can be treated with disimpaction followed by laxative therapy. True incontinence requires an enema programme, with treatment tailored to either hypo or hyper-motile colons. Surgery for pseudo-incontinence, rarely required, takes the form of colonic resection but only for patients with a demonstrated ability to have voluntary bowel movements, albeit with enormous laxative requirements. Removal of the rectosigmoid in this situation can reduce or eliminate the need for laxatives. Surgery for true faecal incontinence involves changing the route for a successfully demonstrated enema programme to an antegrade, i.e., a Malone appendicectomy. CONCLUSION: The keys to success in helping a fecally incontinent child are dedication and sensitivity on the part of the medical team. The basis of the bowel management programme is to clean the colon (either with medical treatment for patients with the potential for bowel control, or artificially with enemas for patients with true faecal incontinence), and then keep the colon quiet for 24 hours until the next treatment, thereby ensuring that the patient is clean and no longer soiling. The programme is an ongoing process of trial and error that responds to the individual patient and differs for each child. We carry out this programme over the course of one week with daily abdominal radiographs as we tailor the regimen. More than 95 % of the children who follow this programme are clean and dry. The clinician must embrace the philosophy that it is unacceptable to send a child with faecal incontinence to school in diapers when their classmates are already toilet trained. Proper treatment to prevent this is perhaps more important than any surgical procedure.

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.

Laparoscopic cecostomy button placement for the management of fecal incontinence in children with Hirschsprung's disease and anorectal anomalies.

BACKGROUND: Antegrade colonic enemas offer a surgical solution for many children with chronic constipation and encopresis associated with Hirschsprung's disease and anorectal malformations. This study demonstrated the feasibility of a new laparoscopic technique for cecostomy button placement (LCBP) to allow antegrade enema treatment. METHODS: Charts of children with encopresis who underwent LCBP between 1999 and 2001 were reviewed. The age, weight, primary diagnosis, operative time, hospital stay, associated complications, follow-up duration, and outcome of the patients were recorded. The surgical technique used a "U-stitch" method and a chait tube or a standard gastrostomy button. A follow-up telephone survey was conducted to assess parental satisfaction and overall success in continence. RESULTS: Seven patients ages 4 to 12 years (mean, 7.3 +/- 1.3 years) and weighing 15 to 44 kg (mean, 24.5 +/- 4 kg) underwent LCBP over a 2-year period. The mean follow-up period was 15 +/- 4 months (range, 6-33 months). Four patients had anorectal malformations, and three patients had Hirschsprung's disease. For all the patients, LCBP was accomplished without any intraoperative complications. The mean operative time was 33 +/- 2 min, and the hospital stay was 2 to 5 days (mean, 3.8 +/- 0.5 days). The patients received one or two daily antegrade enemas, and none had accidental bowel movements. Episodes of soiling at night once or twice a week were observed with two children. Two patients had hypertrophic granulation tissue formation, which responded to topical therapy. The button was uneventfully changed twice in one patient because of mechanical malfunction. CONCLUSION: To manage overflow incontinence of children with anorectal malformations and Hirschsprung's disease, LCBP is a technically straightforward, effective, and reversible method for the placement of a cecostomy button.

Congenital short bowel syndrome with malrotation.

Congenital short bowel syndrome (SBS) associated with malrotation and malabsorption is a very rare condition. We report on an infant girl with congenital SBS associated with malrotation and malabsorption. No polyhydraminos was noted during the regular prenatal examination. Protracted postnatal postprandial vomiting with progressive failure to thrive was noted. A laparotomy showed the small bowel was only about 20 cm in length. She eventually survived with short-term parenteral nutrition and use of oral L-glutamine supplementation. To our knowledge, this might be the shortest length of bowel loop ever reported. Currently, she is 15 months of age with a body weight of about 7 kg and good development.

Results of biofeedback therapy for fecal incontinence in children with encopresis and following surgery for anorectal malformations.

INTRODUCTION: Some children with fecal incontinence respond to biofeedback therapy. However, whether they can achieve fecal continence posttherapeutically has not been clarified. We studied the serial results of biofeedback therapy and discuss the necessity of providing repeated biofeedback therapy at home. METHODS: Nineteen children with encopresis underwent one session of biofeedback therapy. Seven of 15 children with fecal incontinence that developed after surgery for anorectal malformations underwent three to eight sessions of biofeedback therapy; the remaining 8 underwent one (mean, 2.9) session only. The patients were hospitalized for one session of biofeedback therapy. To monitor the clinical outcome of intervention, we used serial score assessments from three months to two years posttherapeutically. RESULTS: Seventeen of 19 (90 percent) patients with encopresis showed clinical improvement after one session of therapy (P < 0.0001). Six months after treatment, however, six of ten (60 percent) patients with encopresis reported recurrent fecal incontinence after one therapeutic session. Clinical improvement was noted in 5 of 15 (33 percent) patients who had fecal incontinence after surgery for anorectal malformations. All five patients showed clinical improvement from six months to two years after several sessions of biofeedback therapy (P < 0.05). CONCLUSIONS: Biofeedback therapy is effective in most children with encopresis and in some children with anorectal malformations. However, some patients need repeated sessions of biofeedback therapy to achieve fecal continence. Therefore, a new portable biofeedback apparatus for the treatment of fecal incontinence at home may be helpful.

Clinical aspects of intestinal neuronal dysplasia.

PURPOSE: The aim of this study was to determine the presence of specific clinical symptoms in intestinal neuronal dysplasia (IND) and whether it correlates to the severity of histopathologic findings. METHODS: A group of 44 severe IND and a group of 16 mild IND patients diagnosed by means of a histochemical rectal biopsy were compared with a group of 37 patients with functional constipation (FC) with normal rectal biopsy results. RESULTS: Patients with severe IND began their symptoms at an earlier age than those with mild IND and FC (5.2 +/- 112 months v 17.5 +/- 23 months and 22.5 +/- 21.8 months, respectively; P <.001). The presence of intestinal obstruction symptoms was more frequent in severe IND patients than in mild IND and FC patients (45.5% v 18.8% v 2.7%, respectively; P <.001). The presence of a fecaloma and soiling were less frequent in the severe IND group than in mild IND and FC groups (20.5% v 56.3% v 59.5%, respectively; P <.001 and 15.9% v 31.3% v 59.5%, respectively; P <.001). Barium enema results showed a lower incidence of rectosigmoid distension in severe IND if compared with mild IND and FC groups (45.5% v 57.1% v 96.9%; P <.001). Internal sphincter relaxation was absent frequently in the severe IND group compared with the FC group (47% v 26.9%, respectively; P <.05). CONCLUSIONS: Intestinal neuronal dysplasia is a distinct histopathologic and clinical entity. Its clinical, radiologic, and manometric presentation correlates to the severity of histochemical findings.

Is a new biofeedback therapy effective for fecal incontinence in patients who have anorectal malformations?

PURPOSE: The authors devised computerized equipment for use in the biofeedback therapy in the management of fecal continence after surgery for anorectal malformations. METHODS: The therapy was used for two to eight sessions in 14 children (11 who had high-type anomalies and three who had intermediate-type anomalies). The ages ranged 5 to 14 years. A control group of 17 children, aged 5 to 11 years, who had encopresis, was also treated with the same biofeedback therapy. RESULTS: Clinical improvement was noted in 5 of the 14 (36%) children who had fecal incontinence, and in 15 of the 17 children (88%) who had encopresis. Both in patients who had fecal incontinence and in those who had encopresis, anal resting pressures were not affected by biofeedback therapy. Furthermore, the anal resting pressure in children who had fecal incontinence was significantly lower than that in children who had encopresis. However, anorectal manometry showed that the biofeedback therapy improved voluntary sphincter function and rectal sensation in both groups. CONCLUSION: Biofeedback therapy appears to be effective in most children who have encopresis whose sphincter function is intact, and in some children who have fecal incontinence after surgery for anorectal malformations.