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     

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     

Qualitative and quantitative analysis of synapses in Hirschsprung's disease

In Hirschsprung's disease (HD), certain intestinal nervous plexuses are absent. Sprouting nerve endings contain different amounts of synaptophysin (SY), a protein and main constituent of acetylcholinesterase (AChE) storage compartments. Due to the lack of specific markers for synapses, a qualitative analysis of nerve endings of intestinal segments affected by HD has not yet been undertaken. For this study, resected colorectal specimens from patients with HD (n= 8, mean age 2.1 years) were investigated in parallel for AChE, SY, and content of small synaptic vesicles by biochemical, immunohistochemical, and electronmicroscopic means. In the microdissected muscular layer, reduced SY (1.4 μg/mg total protein, normal 24 ± 0.3) was observed. Immunohistochemistry showed in affected tissues reduced numbers of SY-positive nerve fibers and nerve endings, which in turn were thickened and distorted, in both the muscle proper and the muscularis mucosae. Combining both morphologic and biochemical findings, in HD the number of cholinergic vesicles in the remaining nerve endings seems to be increased as measured by SY, a marker molecule specific for synaptic vesicles. Our data also suggest that nerve endings in HD may contain high concentrations of cholinergic vesicles, paralleling the known high amounts of acetylcholine and␣AChE found in intestinal segments of patients with HD.     

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     

Rectal biopsy for Hirschsprung's disease: what is the optimum method?

During a 3-year period, 258 infants and children underwent rectal biopsy to exclude Hirschsprung's disease (HD) and related disorders; 32 (12%) were found to have HD. Major morbidity occurred in 3 (2%) of 148 patients undergoing rectal suction biopsy (RSB) and 22 (13%) of 168 suction biopsies were inadequate for diagnosis. In 102 children over 6 months of age, Storz rectal cup biopsy forceps were used with no significant morbidity and adequate biopsies were obtained in 96% of cases. Open rectal biopsy was performed in 8 patients. The RSB tube is safe and reliable, but attention to technique is important. For children over 6 months of age undergoing rectal biopsy for HD, the Storz rectal cup biopsy forceps yields superior results. Accepted: 26 February 1997     

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     

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.     

Anorectal manometry in newborns

Anorectal manometry was performed in 32 neonates: 18 pre-term and 14 full-term infants, mean ages 6.1 and 7.1 days, respectively. The rectoanal inhibitory reflex (RAIR) was positive in 31 cases, and the relaxation waves produced by rectal distention were recorded along the anal canal and were directly related to the intensity of the stimulus. In the remaining patient the RAIR was negative due to Hirschsprung's disease. The length of the anal canal was 11.3 ± 2 mm in pre-term and 14.7 ± 2.9 mm in full-term infants (P < 0.001). These findings suggest that the presence of a RAIR is independent of the weight, gestational age, and birth age of the infant, and that anal canal length correlates with weight. We conclude that anorectal manometry in the neonatal period is a simple, reliable, and safe method of testing anorectal function, including the diagnosis of Hirschsprung's disease.     

Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests

OBJECTIVE: To compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB) for the detection of Hirschsprung's disease (HD). STUDY DESIGN: Following a prospective protocol, infants suspected of HD underwent all 3 index tests. Children with positive results on 2 or more index tests or who continued to have severe bowel problems underwent a full thickness biopsy as reference standard. Clinical follow-up was the reference standard in all other children. RESULTS: Between 2000 and 2003, 111 consecutive patients (67 boys; median age, 5.3 months) in whom HD was suspected were enrolled. HD was found in 28 patients. RSB had the highest sensitivity (93%) and specificity (100%) rates, but values were not significantly different from CE (sensitivity, 76%; specificity, 97%) or from ARM (sensitivity, 83%; specificity, 93%). Inconclusive test results occurred in 8 infants with CE, in 15 infants with ARM because of agitation, and in 2 infants with RSB. CONCLUSION: RSB is the most accurate test for diagnosing HD, and it has the lowest rate of inconclusive test results.     

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     

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     

Kasai's rectoplasty in the treatment of Hirschsprung's disease and other types of colorectal dysganglionosis in children

Kasai's colo(ileo)rectoplasty with posterior triangular colonic flap was performed in 94 children (28 girls and 66 boys). In cases of total colonic aganglionosis Kasai's procedure was modified by Martin's extended side-to-side anastomosis. Aganglionosis (Hirschsprung's disease, HD) was found in 54 cases, HD associated with neuronal intestinal dysplasia (NID) in 26, hypoganglionosis (HG) in 5, HG and NID in 5, and NID in 4. A one-stage procedure was performed in 39 children; in 55 a preliminary enterostomy was carried out. Colo(ileo)rectoplasty without a simultaneous enterostomy was done in 85 children. Wound complications were observed in 18 cases (19.1%): infection in 12 and disruption in 6. Anastomotic leaks occurred in 11 cases (11.7%); subsequent diversion was inevitable in 6. In 10 children (10.6%) the anastomotic stricture was relieved by dilatation. Subsequent sphincteromyectomy of the internal anal sphincter because of constipation was performed in 8 children. Postoperative enterocolitis was observed in 3 cases (3.1%), in 2 of them due to residual dysganglionic colon. There was no mortality in our series. Kasai's procedure compares favorably with other interventions; its advantage is the low incidence of postoperative enterocolitis, however, the intended relief of chronic constipation may fail to occur. To relieve chronic constipation a larger sphincteromyectomy and greater resection of the rectal wall are necessary.     

经脐腹腔镜结肠拖出术治疗先天性巨结肠症

目的 介绍经脐腹腔镜下拖出术治疗先天性巨结肠的手术方法以及临床手术经验.方法 回顾2009年6月至9月,对9例先天性巨结肠患儿采用经脐腹腔镜下拖出术进行治疗.患儿平均年龄为31.9个月(年龄范围在1～99个月),平均体重为16.2 kg(体重范围在4.7～25 kg).患儿脐窝处分别置入3个5 mm trocar,在腹腔镜镜头监控下,使用特制弯曲手柄型腹腔镜操作杆分离相应肠系膜及血管.扩肛,分离直肠肌肉与黏膜,然后将病变肠管呈袖套式拖出肛门外切除,行结肠肛门心形吻合术.记录术前各项检查以及手术相关数据.对手术患儿进行随访,记录术后并发症的发生情况.结果 平均手术时间为155 min(时间范围在110～185 min),平均失血量为40 ml(失血范围在10～100 ml).没有患儿术中转为传统腹腔镜手术或者开腹手术.无一例患儿术中出现腹部血管、肠管、输尿管、输精管损伤.患儿术后3 d进流食,术后7 d可出院.在随访期间,详细记录患儿术后并发症和恢复情况:1例患儿术后16 d出现小肠结肠炎,经过抗感染等对症治疗后好转;其余患儿均未出现术后并发症(吻合口狭窄、吻合口漏、便秘、污粪、大便失禁、腹泻、小肠结肠炎).术毕脐窝稍红肿,术后30d患儿复诊未见明显手术瘢痕.结论 经脐腹腔镜拖出术来治疗先天性巨结肠具有简单易行、美观的优点,适用于长段型巨结肠患儿.     

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     

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.     

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。     

The choice of operative procedures for Hirschsprung's disease allied diseases in children

目的 对先天性巨结肠同源病的手术处理方式做探讨.方法 2008年1月至2010年12月45例巨结肠同源病行根治术,平均年龄(35.5±5)个月,其中节细胞减少症(HG)33例(有既往手术史4例,12.1％),肠神经元发育不良症(IND) 12例(有既往手术史4例,33.33％).所有患儿均在术后1、3、6及12个月进行随访,记录患儿术后排便功能并与术前结果相比较.结果 HG组33例中17例(52％)经开腹手术,16例(48％)腹腔镜辅助或经肛门拖出术.结肠切除范围:左半切除28例(84.8％),次全切除5例(15.2％);12例IND组全部经开腹手术,结肠左半切除4例(33.3％),次全切除8例(66.7％).术后随访:所有患儿便秘症状消失,无手术死亡及严重并发症发生.不同术式组中均有少数患儿持续存在污粪现象,1年期随访经肛门手术显著高于开腹手术(P＜0.05).出现术后污粪患儿施行肛管直肠测压术前肛管静息压(66.5±11.67) mmHg,术后3个月为(52.17±0.31)mmHg较术前明显下降,但至术后6个月～1年后测压为(58±5.7)mmHg,与术前相比均无显著差异.结论 同源病的手术应根据不同病理类型和临床情况选择手术方式:原发性HG病变可采用直接经肛门拖出或腹腔镜辅助游离术.既往曾经肛门直肠手术或年长、晚期患儿应采取保留肛管直肠括约肌形态和功能完整性的术式.IND患儿均需行根治性次全切除术,不主张采用简单的经肛门拖出术式而应采用盆腔内的低位吻合术式.经肛门或腹腔镜辅助经肛门拖出术式组1年期随访时污粪率要高于非拖出术组,左半切或次全切方式对术后是否污粪无影响.     

Experience with primary Swenson resection and pull-through for neonatal Hirschsprung's disease

Over a 5-year period (1984–1989), 25 infants underwent a primary neonatal Swenson resection and pull-through procedure for Hirschsprung's disease. There was no mortality and morbidity was limited to 3 infants, 1 of whom developed a rectourethral fistula. We conclude that with modern anaesthesia and monitoring, a primary reparative operation is a safe and bloodless procedure in the neonate. No diversionary stoma is required for the routine case, but this may be indicated for long-segment disease in view of the length of the longitudinal suture lines of the Martin modification, and also in the event of other complications, e. g. enterocolitis. Early corrective surgery at the time of the first admission was the chosen option of all parents provided the child was in good condition. Offprint requests to: A. Bianchi     

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.     

Colorectal stapled anastomosis for Hirschsprung's disease in small infants

A method is described that allows colorectal end-to-end anastomosis in infants. The rectal mucosa is separated from the muscular layer and anastomosed to the colon by means of a stapler.