The early diagnosis of Hirschsprung's disease

The majority of cases of aganglionosis present and can be diagnosed in the neonatal period. Enterocolitis is a common and fatal complication so that early diagnosis is important. The plain films and enema features of 47 cases diagnosed in the neonatal period were examined. Except when a bowel wash out had been given, all these cases showed obstructive fluid levels in the plain films and the common type of short segment aganglionosis gave an egg on end appearance of low small bowel obstruction in the inverted lateral view. The classical enema features take time to develop and the narrowed aganglio wic area is not always obvious but can be shown by a careful technique of slow filling with delayed films. A high degree of accuracy was obtained except in the cases of preliminary lavage, enterocolitis and meconium plug. To make an early correct diagnosis, it is important to have close correlation between clinicians, radiologists, and pathologists.     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.     

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.     

Hirschsprung's disease presenting as calcified fecaloma

Fecaloma, a discrete mass of intestinal debris and fecal material usually occurring in the colon, is a rare finding in children. The case of a six-year-old boy is presented who developed signs of partial colonic obstruction which was due to a large, calcified fecaloma of the rectosigmoid. Barium enema revealed changes indicating Hirschsprung's disease which were confirmed with rectal biopsy. Any child presenting with fecaloma should be evaluated for Hirschsprung's disease.     

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.     

Anatomically identical short-segment Hirschsprung's disease in three male siblings

Three male children with identical short-segment Hirschsprung's disease born to a young married couple are reported. There was no positive family history despite an extensive search. There were no associated abnormalities. Although sex-modified multifactorial inheritance, with males having a lower threshold of genes for expression of Hirschsprung's disease, is accepted, the identical expression of the disorder in the three siblings presented suggests a dominant, possibly X-linked gene with variable penetrance. Another possibility is that an identical micro-environmental factor was present prenatally resulting in all three boys having Hirschsprung's disease. This is the first report of three siblings with identical short-segment Hirschsprung's disease. Offprint requests to: S. Z. Rubin     

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     

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.     

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     

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     

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.     

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.     

icrobial studies of enterocolitis in Hirschsprung's disease

Enterocolitis in Hirschsprung's disease (HD) has been the most significant cause of morbidity and mortality in children suffering from this disorder. A variety of aetiologies have been postulated, including hypersensitivity to bacterial antigens, proximal colonic dilatation with secondary mucosal ischaemia, abnormalities of the mucosubstances within the colon, elevated prostaglandin El activity, and microbiological infections with pathogens such asClostridium difficile and rotavirus. Recent studies have shown that children with HD who are prone to the development of enterocolitis have abnormalities of their immunological status. Studies of the microbiological flora of the colon of children with HD showed no significant difference between children with uncomplicated HD, those who ran a complicated course with enterocolitis, and a control group with no gastro-intestinal pathology. Viral studies have recently implicated a rotavirus in the aetiology of this condition, thus compounding the problem of pinpointing any particular organism. Previous studies have shown that some children with HD can develop a potentially lethal pseudomembranous colitis even if there has been no previous exposure to antibiotic therapy. These are clearly the group in which otherwise commensalCl. difficile has a significant pathogenic role. In view of this multi-factorial infective aetiology, it is recommended that a high level of suspicion be kept and all children with HD who develop any of the signs or symptoms of enterocolitis should have a full microbiological infective screen, as any number of bacterial or viral organisms may be the causal factor.     

Endorectal pull-through for Hirschsprung's disease

From 1 July 1974 to 30 June 1987, 78 patients with Hirschsprung's disease underwent Soave's endorectal pull-through at the Hadassah University Medical Center in Jerusalem; 12 patients treated by Swenson or modified Duhamel procedures are not included in this report. All the patients were initially diagnosed and treated at our institution. Sixty-three (80%) had standard rectosigmoid disease; 15 (20%) had longer aganglionic segments; and 1 had total colonic aganglionosis. The diagnosis was made in 45 neonates (58%) and 28 infants (36%). Only 5 children were older than 1 year at diagnosis. Seventy-five patients (96%) underwent initial colostomy performed closely proximal to the transition zone. The definitive Soave endorectal pull-through was performed in the majority of the patients before the age of 1 year. There was no mortality. A relatively low morbidity was encountered and all the patients are continent after follow-up periods of 1 to 13 years. In view of its gratifying results, Soave's endorectal pull-through is our preferred definitive procedure for Hirschsprung's disease in infants and young children. Offprint requests to: M. Schiller     

先天性巨结肠的微环境病因学研究

先天性巨结肠是一种复杂的先天性疾病,其特点是神经节细胞在肠管末端缺如,从而引起功能性肠梗阻.它是由基因和环境因素改变而引起的一种复杂疾病.近几十年,人们发现在早期胚胎阶段,肠壁微环境的改变能影响神经嵴母细胞的迁移和分化,是导致先天性巨结肠的重要病因之一.在早期胚胎阶段,肠壁微环境改变包括L1细胞黏附分子、神经生长因子、骨形态发生蛋白等.     

Management of Hirschsprung's disease — an alternate approach

Management of neonatal Hirschsprung's disease based on diagnosis by histologic techniques and frozen acceptable method. However, the non-availability of histologic and histochemical techniques often necessitates alternate approaches. In 376 infants below the age of 2 months who were admitted with the presumptive diagnosis of Hirschsprung's disease, a barium enema was the key investigation. Histologic confirmation could be obtained after a colostomy was established. Manometry allowed the detection of any diagnostic errors. The overall error rate was approximately 4%. An alternate algorithm is suggested for the management of Hirschsprung's Disease, particularly in less well-developed centers. Correspondence to: K. K. Varma     

Hirschsprung's disease coexisting with colonic atresia

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

经肛门SoaveⅠ期拖出根治术治疗小婴儿先天性巨结肠

目的 总结经肛门SoaveI期拖出根治术治疗小婴儿先天性巨结肠的手术过程、疗效及短期随随访。方法 自1999年经该术式治疗小婴儿先天性巨结肠14例。均经钡剂灌肠和直肠粘膜吸引活检诊断为常见型巨结肠。结果 14例切除结肠17～24cm,均于术后2～4d开始进食,术后1个月随访;每日排便8～10次,其中9例行钡剂灌肠未见结肠扩张,24h钡剂潴留;6个月随访（12例）每日排便1～3次,无污染。结论 经肛门SoaveI期拖出根治术治疗小婴儿常见型先天性巨结肠,手术创伤小、操作简单、近期疗效良好。     

先天性巨结肠DNA甲基化的研究进展

先天性巨结肠(Hirschsprung's disease,HSCR)是一种多基因与环境共同作用的复杂疾病,遗传易感性和胚胎期肠道微环境紊乱是其发病的两大主要原因,但其病因及发病机制仍不明确。随着对HSCR发病机制不断深入的研究,发现DNA甲基化异常可能参与神经嵴细胞的增殖、成熟、分化和迁移等过程,从而导致HSCR发生。