Gastrointestinal transit in patients with idiopathic megarectum

PURPOSE: In patients with idiopathic megarectum, it is unknown whether abnormality is limited to the dilated large bowel or whether the upper gut is abnormal, as in the various forms of chronic intestinal pseudo-obstruction. This has important implications for treatment, especially surgery. METHODS: Ten patients (4 females; median age, 18 (range, 17-26) years) with idiopathic megarectum had contrast studies of the upper and lower gut, radioisotope (technetium-99m liquid and indium-111 solid phase) measurement of gastric, small-bowel, and colonic regional transit, and radiopaque marker colonic studies. RESULTS: All patients had a dilated large bowel. No patient had radiographic evidence of upper gut dilation. Four patients had normal and six patients had abnormally slow gastric emptying. Both the radioisotope scans and radiopaque marker studies showed abnormal colonic transit. Regions of delay corresponded with the region of dilated bowel. Symptoms of abdominal distention and bloating did not correspond to abnormalities of gastric emptying but rather with effectiveness of rectal evacuation. CONCLUSION: Patients with idiopathic megarectum have abnormal colonic transit, delay occurring predominantly in the dilated gut. Marker studies are less sensitive than isotope studies but provide adequate information for clinical purposes. Although motility abnormalities of the upper gut are common, symptoms correlate with large-bowel abnormalities.     

Familial occurrence of Hirschsprung's disease

We assessed the familial occurrence of Hirschsprung's disease from 224 probands born in Denmark after 1959. Probands who were still alive received a mailed questionnaire, and medical reports for the probands and their relatives with suspected Hirschsprung's disease were examined. The diagnosis of Hirschsprung's disease required a histologically verified biopsy or surgical colonic specimens, and exclusion of a secondary causes for Hirschsprung's disease. Familial occurrence was seen in 11 families. Ten first-degree, two third-degree and one fifth-degree relatives had Hirschsprung's disease. Both short segment agangliosis (the sigmoid colon or below) and long segment agangliosis (above the sigmoid colon) occurred in five of the 11 families, implying that the etiology of Hirschsprung's disease with short and long segment agangliosis is the same. Compared with the general population, the first-degree relatives of the 224 probands had a minimum of a 93-fold increased risk of Hirschsprung's disease. This strongly suggests that genetic factors play a role in Hirschsprung's disease.     

Oncological implications of RET gene mutations in Hirschsprung's disease

BACKGROUND: Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5-5% of sporadic and familial cases of Hirschsprung's disease. Some patients with Hirschsprung's disease may therefore be exposed to a highly increased risk of tumours. AIMS: To define clinical use of RET gene testing in Hirschsprung's disease and related patient management from an oncological point of view. METHODS: Sixty patients with Hirschsprung's disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented. RESULTS AND CONCLUSIONS: Only 22 families or sporadic patients with Hirschsprung's disease and MEN2A type RET mutations have been reported. Therefore, it is difficult to predict tumour risk for patients with familial or sporadic Hirschsprung's disease, and their relatives, who carry these mutations. For these mutation carriers, periodic screening for tumours as in MEN2A is advised, but prophylactic thyroidectomy is offered hesitantly. RET gene testing in familial or sporadic Hirschsprung's disease is not recommended at present outside a complete clinical research setting. In combined MEN2A/Hirschsprung's disease families RET gene testing, tumour screening, and prophylactic thyroidectomy are indicated as in MEN2A.     

Immunohistochemical evaluations of ultrashort-segment Hirschsprung's disease. Report of three cases

PURPOSE: Unlike classic Hirschsprung's disease, short-segment and ultrashort-segment varieties are usually found to be latent and milder. Ultrashort-segment Hirschsprung's disease may present as intractable chronic constipation in children over one year of age, adolescents, and adults. Anorectal myectomy has been shown in many instances to provide effective long-term treatment for certain patients with ultrashort-segment Hirschsprung's disease. Histologically, the affected segment in Hirschsprung's disease has been shown to have increased cholinergic nerves, lack of nitric oxide synthase-containing neuronal elements, and show moderate to severe loss of myenteric neurons. METHODS: Here, we report three cases that showed clinical and manometric evidence of ultrashort-segment Hirschsprung's disease. Two of the three patients responded well to myectomy. RESULTS: Detailed histologic and immunohistochemical evaluation of the internal anal sphincter and a comparison with three normal controls revealed absence of nitric oxide synthase-containing neurons in both cases that responded well to surgery and continued presence of these neurons in the patient who did not respond. A review of the current literature on various treatment modalities is included. CONCLUSIONS: Anorectal myectomy provides long-term relief of this chronic problem in a subgroup of patients with ultrashort-segment Hirschsprung's disease who lack nitrinergic neurons at the internal anal sphincter.     

Colonic atresia and Hirschsprung's disease association shows further evidence for migration of enteric neurons

The seventh case of colonic atresia and Hirschsprung's disease association is presented. It is proposed that if vascular accident occurs before the eighth week of intrauterine life, it does not only result in atresia but also associates with Hirschsprung's disease.     

Posterior sagittal resection for rectal aganglionosis: preliminary results of a new approach

BACKGROUND: There is no general agreement about how patients who have short-segment Hirschsprung's disease should be treated. METHODS: Ten patients with Hirschsprung's disease, seven with rectal and three with rectosigmoidal aganglionosis, were operated on through a posterior sagittal incision. In nine patients, a primary rectal resection and coloanal anastomosis was performed. In one patient, a longitudinal posterior myectomy of the rectum was performed as a primary procedure, but the procedure was eventually converted to a rectal resection and coloanal anastomosis through the same incision. RESULTS: One early and one late anastomotic complication occurred. Both were successfully treated with a temporary fecal diversion (left-sided colostomy for 6 to 8 weeks). The functional results as evaluated with anorectal manometry were similar to a group of Hirschsprung's patients treated with transabdominal pull-through resection and coloanal anastomosis. CONCLUSION: This approach might prove to be a useful alternative both to the transabdominal resection and the posterior longitudinal rectal myectomy in Hirschsprung's disease with rectal aganglionosis.     

Surgery for constipation: a review

PURPOSE: Constipation is related to intestinal motility disorders (colonic inertia (CI)), pelvic floor disturbances (pelvic outlet obstruction), or a combination of both problems. This review summarizes the physiologic and pathophysiologic changes in patients with intractable constipation and gives an overview of surgical treatment options. RESULTS: Although subtotal colectomy with ileorectal anastomosis is the best surgery for CI, there are still approximately 10 percent of patients who will complain of pain and constipation. A completion proctectomy and an ileoanal pouch procedure may be a viable option in a highly select group of patients. In patients with megabowel, reported results are mixed. Subtotal colectomy, partial colectomy for megacolon, and the Duhamel procedure for megarectum have all been reported with variable results. In patients with an isolated distended sigmoid colon, sigmoid colectomy has achieved good results. Anorectal myectomy has not been proven to be successful in the long term. However, in patients with adult short segment Hirschsprung's disease, myectomy can be successful. Patients with pelvic outlet obstruction can be successfully treated with biofeedback. In a small group of patients with a rectocele or a third degree sigmoidocele, surgical intervention yields a high success rate. Division or resection of the puborectalis muscle is not recommended. In patients with a mixed pattern of CI and pelvic outlet obstruction, surgical intervention alone is often not successful. These patients achieve better results by conservative treatment of pelvic outlet obstruction, followed by a colectomy. CONCLUSION: Surgical intervention for patients with intractable constipation is rarely necessary. However, thorough preoperative physiologic testing is mandatory for a successful outcome.     

Ileal atresia with total colonic aganglionosis

This is the 17th report of the case of an infant who had ileal atresia associated with Hirschsprung's disease, and the second with ganglion cells distal to the atresia. Experience suggests that Hirschsprung's disease should be suspected in all forms of bowel atresia.     

A simplified approach to diagnostic rectal biopsy in infants and children

Ninety-four patients underwent rectal biopsy with a suction capsule during a two year period. This painless procedure was performed in seventy-one patients for diagnosis of aganglionosis (Hirschsprung's disease). In nine patients, no ganglion cells were encountered, and subsequent surgery confirmed the diagnosis of Hirschsprung's disease in each of these patients. In twenty-three patients, biopsies were taken to search for neuronal storage disease. Six specimens contained abnormal material in the cytoplasm of the ganglion cells.     

The neurobiological bases of aggression: the pharmacotherapeutic implications

The pathophysiology and aetiology of Hirschsprung's disease are still uncertain. The presentation varies with age. Various methods are used to make the diagnosis. Differing views of management are held both for emergency and definitive surgery, e.g. emergency colostomy or not, a covering colostomy or not for the definitive surgery, the type of operation used. The problems of diagnosis and treating diseases which mimic Hirschsprung's disease are highlighted.     

Neuronal colonic dysplasia: an unusual association of Hirschsprung's disease

A case of neuronal colonic dysplasia in association with Hirschsprung's disease is described. It is suggested that this condition be borne in mind when investigating operated Hirschsprung's cases having residual symptoms.     

Swenson's operation for neonatal Hirschsprung's disease

OBJECTIVE: To describe our experience with Swenson's operation for Hirschsprung's disease done during the neonatal period. DESIGN: Retrospective study. SETTING: University department of paediatric surgery. SUBJECTS: 10 Neonates with Hirschsprung's disease. INTERVENTIONS: Rectosigmoidectomy and pull through (Swenson's operation), with covering transverse colostomy. MAIN OUTCOME MEASURES: Mortality, morbidity, and continence. RESULTS: The median age at definitive operation was 25 days (range 15-35). There was one late death three weeks after discharge from hospital of respiratory and cardiac failure. Two patients presented with caecal perforation and two with intestinal obstruction; in all four Hirschsprung's disease was diagnosed on frozen section, a transverse colostomy was done, and the Swenson's operation was done electively. The other six were diagnosed by barium enema examination and biopsy, and underwent total bowel irrigation followed by Swenson's operation and transverse colostomy. The colostomies were closed three to four weeks later. There were no postoperative complications. All nine surviving patients were continent (3-4 stools/day), at a mean (SD) follow up of 21 (5) months. CONCLUSION: With the current high standards of anaesthesia and neonatal intensive care, and an experienced surgeon, Swenson's operation for neonatal Hirschsprung's disease is safe and the procedure of choice for this condition.     

Orthognathic surgery: the patients'' perspective

We have evaluated our practice of tube caecostomies in 21 children operated on from January 1982 to December 1987 at the Royal Hospital for sick children, Bristol, and 18 children operated on at the Paediatric Surgery Unit of the Korle-Bu Teaching Hospital, Accra, Ghana from January 1989 to December 1996. The indications for surgery were, Hirschsprung's disease (36) and idiopathic constipation (3). The definitive procedures involved were Duhamel's procedure in 36, Soave's procedure in 2 and colo-anal anastomosis in 1 case. This method reduces the total number of surgical operations required by the child from 3 to 2, thereby reducing the total period of hospitalisation for the child. A sample technique of tube caecostomy is described in 39 children undergoing corrective surgery.     

Antegrade colonic enemas

Thirteen children aged 6-14 (mean 8) years in whom an antegrade colonic enema procedure was performed were reviewed retrospectively. All presented with refractory constipation or faecal soiling over a 3-year period. Nine of the children had previously undergone pull-through procedures for Hirschsprung's disease or high anorectal malformations. Two were suffering from spina bifida and two from idiopathic functional constipation. The operation was performed through a right iliac fossa incision. A catheterizable conduit was created. The appendix was brought out to the wound edge and made continent by intussuscepting the appendix base into the caecum. When the appendix was absent or unusable, a caecal tube was formed. Five patients suffered minor morbidity, six required a further operative procedure and two eventually required a sigmoid colostomy. However, the eventual outcome of a continent stoma was attained in 11 of the 13 children, all of whom would have been considered for sigmoid colostomy before introduction of the antegrade colonic enema procedure.     

Surgical correction of Hirschprung's disease: 7 years' experience with the Rehbein technique

Twenty-seven children with Hirschsprung's disease underwent surgery using a modified Rehbein procedure. All the patients were admitted under one unit at the Jos University Teaching Hospital, Nigeria, over a 7-year period from April 1985 to March 1992. There was a male:female ratio of 3:1 with an average age at presentation of 21 months. Skin excoriation (19.0%) following initial colostomy was the commonest postoperative complication, while wound infection (18.5%) featured most often after definitIve surgery. There were no deaths following this procedure. The modified Rehbein technique is a safe and efficacious definitive method of surgical correction of Hirschsprung's disease.     

Definitive treatment of Hirschsprung's disease in the newborn with a one-stage procedure

BACKGROUND: The purpose of this study was to review our experience and early follow-up with 15 one-stage pull-through procedures performed at the time of diagnosis in neonates and infants with Hirschsprung's disease. METHODS: Historic chart review of all patients with the new diagnosis of Hirschsprung's disease seen at the C.S. Mott Children's Hospital at the University of Michigan, Ann Arbor, between June 1989 and June 1992 was performed. Progress notes, operative and anesthetic records, pathology reports, and outpatient follow-up notes were used for data collection. RESULTS: Operative technique included a modified endorectal pull-through after determining the presence of ganglion cells by frozen section. No colostomies were performed before or after operation. Three patients had affected family members. All infants were born at term. Operation was performed within 24 hours of diagnosis and as early as 48 hours of age. Twelve patients had standard rectosigmoid disease, two had total colonic disease, and another had long-segment disease. Bowel function returned within 4 days of operation, and feeding was instituted by postoperative day 6 in all patients. All of the patients with rectosigmoid disease are doing well. Patients with long-segment or total colonic disease had more problems but are currently at home and doing well. Morbidity included two postoperative bowel obstructions and three patients with postoperative enterocolitis. CONCLUSIONS: A single definitive operation may be used to treat Hirschsprung's disease diagnosed in the newborn. Long-term follow-up in these patients is required.     

Results of the double stapling procedure in colorectal surgery

In this report we review our results with the double stapling technique (DST) in 162 patients with colorectal diseases in an attempt to identify some of the potential pitfalls of this new technique. Among these 162 patients, there were 125 patients with colorectal cancer, 25 with chronic ulcerative colitis (UC), 9 with familial adenomatous polyposis (FAP), 2 with adult Hirschsprung's disease, and 1 with sigmoid colon fistula. A total of 46 anastomoses (28 for rectal cancer, 13 for UC, 3 for FAP, and 2 for adult Hirschsprung's disease) were performed at or near the dentate line. Of these, 10 had protective diverting colostomy or ileostomy. The results showed that 6 patients with rectal cancer had anastomotic leakage (3.7%); however, 4 of the 6 patients had also received preoperative irradiation. All the leaks healed after the patients had undergone diverting colostomy, but 7 patients with rectal cancer suffered from neurogenic bladder postoperatively (4.3%). Wound infection occurred in 4 patients (2.5%), anastomotic bleeding in 3 (1.9%), and anal pain in 1 (0.6%), respectively. One patient with rectal cancer and multiple liver metastases died of disseminated intravascular coagulation (DIC). These results thus suggest that the double stapling technique provides a safe anastomosis at or near the dentate line not only for rectal cancer but also for UC, FAP, and adult Hirschsprung's disease.     

Constipation: a common problem in patients with neurological abnormalities

Constipation is a frequent complaint among patients with different neurological diseases. This review provides a brief account of the numerous conditions affecting the central, peripheral and intrinsic (enteric) nervous systems in which constipation can be the only clinical manifestation or a component of a complex syndrome. Recent neuropathophysiological acquisitions show that any structural or functional impairment of the intrinsic innervation of the gut, including both developmental (i.e., Hirschsprung's disease and intestinal neuronal dysplasia) and acquired (i.e., either degenerative or inflammatory neuropathies) disorders, can be associated with constipation. Constipation may also arise from derangements of the peripheral nervous system, including diabetes and primary chronic autonomic failure (pandysautonomias). Finally, in the central nervous system, a wide array of disorders (post-traumatic, degenerative, ischaemic or neoplastic) are recognized to determine bowel dysfunction, ultimately leading to constipation. Further understanding of the fine pathophysiological mechanisms through which the intrinsic and extrinsic nerve supplies to the digestive system are involved in idiopathic constipation or in diseases generating this symptom will hopefully lead to a better treatment of this frequent pathological condition.     

Staged pull-through for rectosigmoid Hirschsprung's disease is not safer than primary pull-through

Conventional treatment of Hirschsprung's disease consists of initial colostomy followed by pull-through (staged PT). During the past decade immediate definitive operation (primary PT) has been reported by several investigators with a complication rate ranging from 0% to 20%. In the authors' institution primary PT has been performed since 1992 in patients with rectosigmoid aganglionosis responsive to rectal irrigations. The authors reviewed the records of all patients (n = 124) with Hirschsprung's disease diagnosed and treated between 1989 and 1995. One hundred sixteen patients underwent a definitive operation. This study analysed the complications observed in 87 of these patients with aganglionosis limited to the rectosigmoid colon. Patients were divided into groups according to the type of surgical treatment (staged versus primary), the year of operation (1989 through 1992 versus 1992 through 1995), and the age at primary PT (15 infants age < or = 4 months versus 10 children age > 4 months). There were no deaths. There was no significant difference in complication rates between staged PT and primary PT. Similar complication rates were encountered in infants and children who underwent primary PT. The rate of postoperative complications did not change according to the year of the operation. Major complications were observed in all 3 patients who had a primary Swenson PT compared with 20% who had a primary Duhamel PT. Staged Swenson and Duhamel PT had similar complication rates. The authors conclude that (1) staged PT for rectosigmoid Hirschsprung's disease is not any safer than primary PT; (2) primary PT can be performed safely in young infants; and (3) primary Swenson PT is less satisfactory than primary Duhamel PT.