Hirschsprung's disease coexisting with colonic atresia

A case is presented to emphasize the potential coexistence of Hirschsprung's disease and intestinal atresia.     

Neonatal one-stage repair of Hirschsprung's disease

In this series of 13 patients a one-stage repair, suitable for use in the 1st postnatal week, was developed. The endorectal technique was utilised for the pelvic dissection and an end-to-end anastomosis was then constructed. Modification of adult instruments assisted dissecting in the neonatal pelvis as well as allowing for a precise colo-anal anastomosis. There were no associated deaths and the complication rate was low. Although the technique is a variation of established methods, there are features that should stimulate theoretical discussion and further consideration of neonatal treatment of Hirschsprung's disease.     

Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome

Presentation with signs of bowel obstruction in an infant with Waardenburg syndrome should raise the suspicion of aganglionosis. We report such a case of long segment Hirschsprung's disease associated with Waardenburg syndrome. Long term care of such children is fraught with high morbidity and mortality.     

The electrorectogram in Hirschsprung's disease

The electrorectographic pattern of Hirschsprung's disease (HD) was studied in 14 HD patients with a mean age of 4.6 ± 1.5 years; 7 healthy children acted as controls. Monpolar recordings were made from a silver-silver chloride electrode situated 1 cm from the tip of a 4 F catheter attached to the rectal mucosa by suction. At least four 120-min recording sessions were performed for each subject. No complications were encountered. Regular and reproducible triphasic pacesetter potentials (PP) were recorded from all healthy children, followed randomly by bursts of action potentials (AP). No PP or AP were recorded from patients with HD; the silent electrorectogram (ERG) was reproducible. Since numerous difficulties in histopathologic interpretation affect the reliability of rectal biopsy for the diagnosis of HD, the ERG may play a role in this respect. The ERG is noninvasive and nonradiologic; however, until this investigati tool is substantiated by the work of other investigators, a histologic diagnosis needs to be made before undertaking a pull-through procedure.     

Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient

 Omphalocele, colonic atresia (CA), and Hirschsprung's disease (HD) are individually rare congenital malformations. An association between CA and HD has been described, but the co-occurrence of all three malformations has not been previously reported. We present an infant born with all three malformations and review the management issues relevant to this case, with an emphasis on the importance of considering co-existent HD in any infant born with CA. Accepted: 14 April 2000     

Pitfalls and limitations of testing the rectoanal inhibitory reflex in screening for Hirschsprung's disease

Problems in testing the absence or presence of the rectoanal inhibitory reflex (RAIR) were analyzed in 261 consecutive patients referred to confirm or exclude Hirschsprung's disease. Confident interpretation of the manometric record was possible in 89% of the cases. False results were observed in 9 patients (4%): false-negative tests (the presence of Hirschsprung's disease could not be identified) in 2 and false-positive tests (inability to induce a RAIR in patients who turned out not to have Hirschsprung's disease) in 7. In 11% the manometric result was equivocal. The value of anorectal manometry was most limited below the age of 1 month.Equivocal and false manometric results can be limited by: (1) avoiding anal stretching just before manometry; (2) avoiding restlessness during the examination; (3) leaving the catheter of the rectal distending balloon unfixed; (4) exact positioning of the pressure-recording devices in the anal canal; (5) regular checks of the position of the distending and recording devices; (6) distending the rectal ampulla until the rectal sensation level is reached; and (7) strict application of the characteristic features of a normal RAIR during analysis, i.e. a reproducible and progressive anal pressure decrease followed by recovery of the basal tone or transient inhibition of anal pressure waves induced by rectal distension. While a rectal biopsy remains the golden standard for final diagnosis, anorectal manometry is preferable for screening but should be complemented by biopsy if the first examination is equivocal, if the RAIR is absent, or when the clinical condition an/or the result of contrast enema conflict with a negative manometric test. A high degree of manometric accuracy can be reached after adequate initiation, as evidenced by the comparable performances of the five examiners in this study with different degrees of expertise. Offprint requests to: F. Penninckx     

Infantile Hirschsprung's disease — is a barium enema useful?

This study examined the usefulness of barium enema examination in the diagnosis and evaluation of extent of aganglionosis in the 1st year of life. Twenty-four cases of Hirschsprung's disease in children less than 1 year of age were diagnosed from 1981 to 1989; 17 infants had a barium enema performed. A correct diagnosis was made by barium enema in 13 of the 17 infants, with the level of transition being correctly identified in only 8. Operative assessment of the cone was accurate in 14 of 24 infants, indicating that operative biopsy is always required. Therefore, the barium enema had a 24% false-negative rate in the diagnosis of Hirschsprung's disease and a 53% error rate in determining the level of transition. In the investigation of an infant with a low bowel obstruction, the initial procedure suggested is a rectal washout. If this results in relief of the obstruction, it should be followed by a rectal biopsy. A barium enema adds insignificant information. Offprint requests to: D. CassPaper presented at the Australian Association of Paediatric Surgeons Annual meeting, October 1989     

Neonatal intestinal perforation in Hirschsprung's disease

Over a period of 18 years, 77 of 135 patients treated for Hirschsprung's disease (HD) presented in the neonatal period. Of these 77 patients, 8 had gastrointestinal (GI) perforations. Seven patients were born at full term and 1 at 32 weeks of gestation. Three patients had associated trisomy 21. The site of perforation included rectum in 1 patient, sigmoid in 1, descending colon in 1, transverse colon in 2, caecum in 2, and jejunum in 1. Perforations occurred in ganglionic bowel in 7 patients and in the aganglionic segment in 1. One patient died in the newborn period of overwhelming sepsis secondary to enterocolitis, and histology of the bowel confirmed HD. In 6 patients HD was confirmed on barium enema and suction rectal biopsy, and they subsequently underwent a definitive pull-through operation. The 1 patient in whom the initial barium enema was normal continued to suffer from constipation until the age of 7 years, when the diagnosis of HD was established. He then underwent a pull-through procedure with no further problems. An association between neonatal intestinal perforation and HD must therefore be recognised to avoid delay in the management. Correspondence to: P. Puri     

Intestinal atresia

During a period from 1970 to 1981, a total of 38 neonates of intestinal atresia have been treated at the Kobe Children’s Hospital. Three of nine patients occurring prior to 1973 died due to inadequare preoperative management and delay in closure of enterostomy which had been created for perforation of the bowel. In 29 patients seen after 1974, there has been only one death in whom the residual bowel was 40 cm. Refinement in anastomotic technique and advance in management before and after operation have greatly contributed to improvement in the results of surgical treatment.     

Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations.     

先天性巨结肠粘膜肌和Meissener's神经丛病变

探讨先天性巨结肠粘膜肌有关病变特点、规律及Ｍｅｉｓｓｅｎｅｒ’ｓ神经丛的分布。方法对１８例先天性巨结肠手术切除术标本沿系膜侧纵行、全段、不间断取材、切片,均做ＨＥ、ＶＧ、Ｆｏｏｔ’ｓ网状纤维、弹力纤维的变化,及其Ａｕｅｒｂａｃｈ’ｓ神经丛与Ｍｅｉｓｓｅｎｅｒ’ｓ神经丛的分布与关系。结果先天性巨结肠粘膜肌病变表现为：狭窄段粘膜平滑肌动蛋白升消失,网状纤维、弹力纤维网络状结构变形、塌陷以至消失,其减少     

Use of a circular stapler for the surgical treatment of Hirschsprung's disease

Thirteen patients, 10 with classical Hirschsprung's disease and 3 with total colonic aganglionosis, were operated upon by anterior resection (11 cases) or pull-through (2 cases) and the anastomosis was constructed with a circular stapler. The age at operation ranged from 9 months to 17 years (median 17 months). A very low resection was obtained, with the level of anastomosis less than 2 cm from the dentate line. The anastomosis was covered by a temporary enterostomy in all but 2 patients. One dorsal anastomotic leak was demonstrated at radiological follow-up. No further anastomotic complications were observed, and all enterostomies were closed within 10 weeks post-resection. The use of a circular stapler is recommended as a modification of the Rehbein operation or the Swenson pull-through.     

Intestinal atresia

Intestinal atresia accounts for about one third of all cases of neonatal intestinal obstruction. The survival rate has improved to 90% in most of the series with the operative mortality being <1%. The survival rate improves with distal atresias. An increased mortality is observed in multiple atresias (57%), apple peel atresia (71%), and when atresia is associated with meconium ileus (65%), meconium peritonitis (50%) and gastroschisis (66%). Although appearance of echogenic bowel on prenatal ultrasonography is suggestive of GI, it is confirmed in only 27% cases. Prenatal ultrasonography is more reliable in detection of dudenal atresia than more distal lesions. Short bowel syndrome is the major impediment in the management of jejunoileal atresia. Although total parenteral nutrition (TPN) is the main adjunctive treatment, it delays intestinal adaptation and may cause cholestasia and subsequent liver damage. Graduated enteric feedings, use of growth hormone, glutamine and modifed diets containing low fat, complex carbohydrates and protein supplements have been used in a adults with short bowel syndrome to successfully diminish TPN requirements and enhance nutrient absorption in nearly half of the patients. Utilization of growth factors to facilitate intestinal adaptation and advances in small bowel transplant may improve the long-term outcomes in future.     

Enterocolitis in Hirschsprung's disease

During the 5 years 1985–1989, 24 (32%) of 76 patients treated for Hirschsprung's disease (HD) developed enterocolitis, this being present at the time of diagnosis in 10 (13%) infants, 7 of whom were neonates. HD presented as necrotizing enterocolitis in 5 neonates, 4 of whom were premature. The enterocolitis developed postoperatively in 14 (18%) patients, in 7 after an enterostomy and in 7 after a pull-through procedure. Recurrent episodes of enterocolitis occurred in 4 of the patients who developed postoperative enterocolitis. The risk of enterocolitis was increased in girls, in patients with associated Down's syndrome, those with a family history of HD, and those managed by an endorectal pull-through procedure. The Duhamel procedure was associated with a low (5%) incidence of postoperative enterocolitis. Long-segment aganglionosis was not associated with an increased risk of enterocolitis and preoperative enterocolitis conferred no increased risk of postoperative enterocolitis.     

Reoperation for Hirschsprung's disease

目的 分析先天性巨结肠根治术后再次手术的病例,分析再次手术的原因,讨论手术指征和再次手术方式的选择.方法 回顾分析1999年至2011年间先天性巨结肠根治术后再次手术19例临床资料.再次手术原因:吻合口狭窄5例,残留无神经节细胞症5例,直肠皮肤瘘6例,直肠阴道瘘1例,复杂瘘2例.再次手术方式:经腹联合后矢状入路术式7例,Soave术式7例,Duhamel术式1例,Rehbein术式3例,经腹修补直肠阴道瘘1例.随访患儿术后不同时期排便次数、粪便性状、便秘、失禁、污粪以及小肠结肠炎等内容.结果 84.2％(16/19)患儿有便意,能自行排便,2例偶有污粪,1例直肠骶部瘘未愈.结论 先天性巨结肠根治术后出现严重并发症,通过合理选择再次手术方式,可以达到满意的临床效果.     

先天性小肠闭锁术后肠动力功能障碍的原因探讨

目的探讨小肠闭锁术后发生肠动力功能障碍的原因及手术切除病变肠管范围。方法对小肠闭锁手术切除小肠标本15例及对照组6例非肠道或神经系统疾病死亡的足月新生儿尸检小肠标本肠壁S-100蛋白、α-平滑肌肌动蛋白（α-SMA）和c-kit蛋白进行免疫组化研究。观察闭锁两端肠壁肠神经系统（ENS）、平滑肌和肠间质细胞（ICCs）病理改变及其分布范围，并行统计学处理。结果闭锁近端肠壁S-100、α-SMA和c—kit阳性表达明显低于对照组。随远离盲端，以上指标呈逐渐增加趋势。在闭锁近端16cm、远端4cm处，三者病变总体趋于正常。结论小肠闭锁两端肠壁与肠动力密切相关的ENS、平滑肌和ICCs均存在病变。是小肠闭锁术后发生肠道动力功能障碍的原因。在患儿小肠长度允许的情况下．切除闭锁近端肠管16cm以上，而远端切除4cm．可减少或避免术后肠动力功能障碍的发生。     

Treatment of Hirschsprung's disease without colostomy

The authors report 21 cases of Hirschsprung's disease with severe neonatal symptoms: intestinal obstruction, enterocolitis, and necrotizing enterocolitis. The goal of the approach was to avoid colostomy. After the diagnosis was established, prompt treatment was begun usually with total parenteral nutrition (TPN) via a central catheter. In the first 11 patients surgery was performed at an average age of 8 months, starting preoperatively with an elemental diet. From 1987,to 1990, 10 patients were treated. After a period,of TPN and complete resolution of intestinal symptoms, an early Soave pull-through was performed at an average age of 34 days. Follow-up varied from 16 months to 8 years. The results were excellent: there were no anastomotic leaks or infections and stenosis was prevented by means of periodic calibrations and/or dilitations. Evacuations were regular in all cases. Correspondence to: C. Del Rossi     

Hirschsprung's disease

From 1972 to 1985, 214 patients were treated for Hirschsprung's disease. One patient underwent a Swenson pull-through operation, 13 a Soave procedure, and 195 had modifications of the Duhamel procedure. Six children are newly diagnosed and awaiting definitive therapy. Of the patients in whom a modified Duhamel procedure was performed, 153 were males (78%) and 7 (4%) had Down's syndrome. There was no operative mortality for the procedure, and only 4 late deaths have been observed (3 with Down's syndrome). Fecaloma occurred in 12 of 14 patients who underwent the classic operation described by Duhamel, and postoperative enterocolitis was noted in 4 of 6 patients who had Martin's long Duhamel modification for total colonic aganglionosis. No urologic problems or anastomotic leaks were identified, and only 1 patient developed a rectal stricture postoperatively. Growth and development and fecal continence have been excellent in the vast majority of patients. The modified Duhamel pull-through operation is associated with excellent survival and highly acceptable long-term function. Offprint requests to: D. W. Vane at the above address     

Transanal endorectal coloanal anastomosis for Hirschsprung's disease

In adults, transanal endorectal colo- or ileoanal anastomosis has recently been advocated for low rectal malignancies and restorative proctocolectomy in ulcerative colitis and familial polyposis. Since 1987, we have used this approach in 20 patients for operative correction of Hirschsprung's disease. In 13 patients the definitive operation was performed before the age of 6 months. A rectosigmoidectomy to the undilated colon was performed transabdominally. The rectum was dissected caudally to the upper border of the levator muscles. Mucosal proctectomy was performed transanally beginning 3–5 mm above the pectinate line. The submucosal dissection extended proximally for a distance of 5 cm. The rectum was excised transanally so that a 2–3-cm muscular cuff remained. The ganglionic colon was pulled through and sutured to the mucosal edge. There have been no operative complications. The postoperative follow-up period ranges from 9 months to 4 years. The preliminary functional results suggest that the patients gain early normal, age-appropriate bowel function postoperatively, without soiling or residual constipation. Correspondence to: R. Rintala