Hirschsprung disease and Down syndrome: From the reappraisal of risk factors to the impact of surgery

IntroductionThe association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR + DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome.Materials and methodsThe notes of all patients admitted with a diagnosis of HSCR + DS have been retrospectively reviewed. Surgical details, intraoperative complications, long term issues and functional outcome have been recorded. The results have been compared to those of patients without DS and were assessed based on surgical approach.ResultsA total of 23 HSCR + DS out of a series of 385 HSCR (6%) have been included. Preoperative enterocolitis (HAEC) was reported by 32%. Associated anomalies were detected in more than half of the patients. In particular, Congenital Heart Defects (CHDs) were reported by 57%. Postoperative complications (mostly symptomatic anal sphincter achalasia) were experienced by 55%. Constipation was experienced by 30%; severe continence issues, by 53%. One patient suffering from severe CHDs died. With regard to complications, only symptomatic anal achalasia requiring intrasphincteric BoTox injection was significantly more frequent in HSCR + DS (30% vs 10%, p = 0.0071). Similarly, continence proved to be significantly worse in HSCR + DS.DiscussionWith the exception of symptomatic anal achalasia, HSCR + DS patients proved not to have a higher likelihood of complications compared to HSCR alone. On the other hand, functional results in the long term are worse. As a consequence, long term follow up and personalized rehabilitation programs are warranted for this delicate subset of HSCR patients.Level of evidenceLevel III.     

Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population

BackgroundClinical association between Hirschsprung disease (HD) and Down syndrome (DS) is well established. RET promoter and intron 1 variations have been shown to interfere with RET function, increasing the risk of HD pathogenesis. The intronic single-nucleotide polymorphism 2 (SNP2 [rs2435357]) has been associated with DS-associated HD (DS-HD). This study focuses on variations of specific RET intron, 1 SNPs (viz, SNP1 [rs2506004] and SNP2 [rs2435357]) in DS-HD.Patients and MethodsDNA was extracted from paraffin-embedded tissue samples and whole blood in 14 patients with DS with histologically proven HD. Polymerase chain reaction products of RET intron 1 were screened for genetic variation and matched to DS and controls from the general population.ResultsThirty-seven blood and/or tissue from 14 patients with DS-HD were investigated. RET intronic variations (SNP1 [rs2506004] or SNP2 [rs2435357]) were detected in all patients. SNP1 was detected in all patients, was heterozygous in 9, and homozygous in 5 samples (all aganglionic and 1 total colonic aganglionosis). SNP2 was absent in 6 patients, heterozygous in 6, and homozygous in 3. Three DS controls had a heterozygous SNP1. Homozygous intronic SNP RET variations were related to aganglionic tissue but not normally ganglionated or transitional zone from the same individual.ConclusionsPotential disease-related RET mutations were identified in the intron region in 80% of patients with DS-HD investigated, suggesting a causal relationship. The presence of a homozygous form in the aganglionic tissue probably represents a somatic mutation, which suggests local microenvironmental factors in HD pathogenesis.     

Hirschsprung disease with Edward syndrome: A rare association: A case report

Introduction and importanceEdward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented.Case presentationA female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels.Clinical discussionEdward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important.ConclusionsEdward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the cornerstone of management. However, the prognosis remains poor.     

Reoperations in Hirschsprung disease

Background

We sought to identify causes of preventable complications related to operations for Hirschsprung disease.

Methods

We reviewed the cases of 51 patients with Hirschsprung disease who underwent a primary procedure elsewhere, had a complication, and were referred for reoperation.

Results

Thirty-five patients had 1 failed operation, 10 had 2, and 6 had 3. Initial operations were Soave (20), Duhamel (15), Swenson (5), transanal endorectal (4), myectomy (3), unknown (3), and laparoscopic Swenson (1). Thirty-one patients presented with a stoma. Patients without a stoma (20) had fecal impaction (8), recurrent enterocolitis (6), and fecal incontinence (6). None had both enterocolitis and incontinence. Reoperation was performed posterior sagittally (40) or transanally (5). Indications included stricture (21), megarectal Duhamel pouches (12), fistulae (11 [8 rectocutaneous, 2 rectourethral, and 1 rectovaginal]), pouchitis (2), and retained aganglionic bowel (8). After reoperation, 14 were continent, 11 had a stoma (8 permanent), 6 had voluntary bowel movements but soiled occasionally, 6 received rectal irrigations to avoid enterocolitis, 6 were incontinent but clean with bowel management, and 2 were lost to follow-up.

Conclusion

Stricture, megarectal pouch, fistula, and retained aganglionic bowel are preventable complications. Enterocolitis is partially preventable but can occur after a technically correct procedure. Fecal incontinence is a preventable complication likely because of anal canal damage.     

Hirschsprung disease in adulthood: An alternative surgical approach using a U-shaped circular anastomosis

Aim-Background

Hirschsprung Disease (HD), congenital intestinal aganglionosis, or aganglionic megacolon represents a congenital abnormality which is characterized by the absence of neural crest-derived enteric neural ganglia along a variable length of the intestine. Affecting mainly children, it is an infrequent clinical entity in adulthood.

Case report

The case of a 23-year-old female with an acute faecal impaction and history of chronic constipation and long-term use of laxatives is presented. An alternative surgical technique (curvilinear stapler) for coloanal anastomosis and review of the literature are discussed.

Results

A successful U-shaped anastomosis 1.5-2 cm above the dentate line, with no postoperative stricture or incontinence as assessed by manometry is described below in this case report.

Conclusion

Proctocolectomy by curvilinear staplers represents an efficacious treatment method for aganglionosis, offering a good quality of life to patients with Hirschsprung.     

An opportunity for improvement in trauma care: 8-week booster vaccination adherence among patients after trauma splenectomy

Background

Splenectomies are common after abdominal trauma, and measures must be taken to prevent infection, namely, the administration of available conjugate vaccinations against encapsulated organisms. While initial immunization is frequently completed prior to discharge, the Advisory Council on Immunization Practices recommends administration of an 8-week vaccination booster against S. pneumoniae, and compliance with this practice is unknown. We hypothesized that patients undergoing splenectomy for trauma would not routinely receive the recommended immunization and subsequent booster.

细胞黏附分子在先天性巨结肠症中的表达

目的　观察先天性巨结肠症 (HD)患者细胞黏附分子 (CAMs)在神经节正常肠段和神经节缺如肠段的表达情况。探讨CAM 成纤维细胞生长因子 (FGFR)信号传导在HD致病机制中的作用。方法　应用链酶抗生素蛋白 生物素 过氧化酶复合体法 (SABC) ,检测 16例HD患者中神经节正常和缺如肠段中CAMs的表达。结果　神经节细胞黏附分子 (NCAM )和神经元细胞钙黏素(N cadherin)在神经组织和平滑肌组织中都有表达 ,但在神经节正常肠段 (NG )肠组织中NCAM和N cadherin染色的神经纤维的数量明显多于神经节缺如肠段 (AG)。结论　CAMs在AG肠段的明显减少说明HD患者中CAM FGFR信号传导发生了异常 ,可能是导致肠神经母细胞移行障碍的原因之一。     

腹腔镜辅助改良Soave术治疗成人先天性巨结肠症

Objective To evaluate the clinical value of laparoscopy-assisted modified Soave procedure for Hirschsprung disease in adults.Methods Twenty-eight patients with a preoperative diagnosis of Hirschsprung disease underwent laparoscopy-assisted modified Soave procedure between March 2005 and December 2009.Clinical data were retrospectively analyzed.Results There were no conversions to open surgery.The mean operative time was (165±12) minutes (range:135-185 minutes).Estimated blood loss ranged from 50 to 250 ml,and no patients required intraoperative blood transfusion.Postoperative pathologic examination showed Hirschsprung diseases in 19 patients and Hirschsprung allied diseases in 9.Only two patients developed rectal cuff infection and three mild seepage.Other patients had no postoperative complications.The mean hospital stay was (17.5±1.0)days.No fecal incontinence or recurrent constipation occurred during follow-up.Conclusion Laparoscopyassisted modified Soave procedure is safe and effective for Hirschsprung disease.     

Redo pullthrough for Hirschsprung disease: A single surgical group's experience

Introduction

This study presents our surgical experience for redo-pullthrough (RedoPT) for Hirschsprung disease (HD). It reviews the patient's clinical outcomes and assesses stooling patterns after RedoPT.

Methods

A retrospective review of our institution's RedoPTs as well as one author's overseas cases was performed. Stooling scores were tabulated using an established survey tool and compared to primary PT matched patients.

Results

Between 1974 and 2012, 46 individuals (52% males) underwent RedoPT, representing 3 percent of all HD pullthroughs. Median age at primary PT and RedoPT was 1 year (range 1 week–18 years) and 3.5 years (range 8 weeks–41 years), respectively. Indications for RedoPT were predominately for aganglionosis/transition zone pathology (71%); followed by stricture or an obstructing Duhamel pouch (19%), tight cuff (8%) and a twisted PT (4%). None were performed for an isolated clinical diagnosis of repeated bouts of enterocolitis. RedoPT surgical approach depended upon the initial pullthrough technique and any previous complications. Stooling scores were significantly (P < 0.05) worse in the RedoPT patients compared to the historically-matched group of children undergoing a primary PT for HD (5.5 ± 1.2 vs. 12.2 ± 1.4, primary PT versus RedoPT, respectively). When breaking down this total score into individual parameters, stooling pattern scores (1.0 ± 0.2 vs. 4.1 ± 0.4, P = 0.001) and enterocolitis scores (2.0 ± 0.4 vs. 4.2 ± 0.4, P = 0.001) were statistically worse in the RedoPT group. Patients in both groups had similar overall continence rates.

Conclusion

Appropriately selected children undergoing a RedoPT can achieve good results, with comparable continence rates to those undergoing a primary PT.     

先天性巨结肠术后便秘复发再手术37例临床分析

目的总结先天性巨结肠术后便秘复发的原因及再手术的治疗经验。方法分析37例先天性巨结肠术后便秘复发再手术患儿的临床资料。结果37例患儿术后便秘复发的主要原因为肠管切除不足14例,合并肠神经发育不良6例,闸门综合征5例,其他原因12例。再手术后无1例死亡;31例(83.8%)获6个月至11年的随访。术后15例排便1～2次/d,7例1次/2d,6例1次/3d;1例Rehbein术者(该术式本身保留了过多的病变直肠)和1例Soaves术者(再手术后未及时行肛管扩张)每周排便1～2次,仍间断使用缓泻剂;1例Soaves术者术后有粪液污裤现象。均无大便失禁者。结论先天性巨结肠便秘复发的主要原因为肠管切除不足;复发后再手术效果良好。     

Outcomes of preoperative anal dilatation for Hirschsprung disease

Background/PurposeThere are some studies about the effect of postoperative anal dilatation on anastomotic stenosis and Hirschsprung-associated enterocolitis (HAEC), but we have not seen any report about preoperative anal dilatation. We hypothesized that preoperative anal dilatation could reduce the incidence of HAEC and facilitate the operation. We aim to compare the HAEC rates and postoperative complications between groups who either had or did not have anal dilatations (AD or NAD) prescribed before laparoscopic-assisted Soave pull-through procedures for Hirschsprung disease (HD); by this means, we will evaluate the benefit of dilatations before the surgery for HD.MethodsA retrospective review of children with HD operated in our hospital between 2014 and 2018 was performed. Those with 21 trisomy, total colonic aganglionosis, multiple stage procedures, serious congenital malformations, and lost to follow-up were excluded. Patients were divided into preoperative anal dilatation group (AD group) and no preoperative anal dilatation group (NAD group). Routine anal dilatation was performed in both groups from 2 weeks after laparoscopic-assisted Soave pull-through. The anal dilatation was carried out daily with metal anal dilators with size appropriate to the age of the child. The size of the anal dilators was increased by 1 mm every 2 weeks for at least 3 months. Demographic data, operation time, pre- and postoperative HAEC rates and postoperative obstructive symptoms between groups were compared. Significance was considered at P < 0.05.ResultsThere were 95 children (17 female and 78 male) included, 36 AD and 59 NAD. There was no significant difference in demographic data between the two groups. The incidence of HAEC between the groups was not different both preoperatively (14% vs. 24%, P = 0.298) and postoperatively (11% vs. 19%, P = 0.171). The postoperative obstructive symptoms rates were 19% versus 22% for the AD and NAD groups, respectively (P = 0.802). The operation time of group AD was significantly shorter than that of group NAD (P = 0.008). Preoperative anal dilatation could shorten the operation time in short and typical-segment (2.08 ± 0.39 vs. 2.67 ± 0.37, P = 0.009 and 3.05 ± 0.38 vs. 3.29 ± 0.46, P = 0.042), but has no significant effect on long-segment disease (3.85 ± 0.41 vs. 3.89 ± 0.30, P = 0.839).ConclusionWe have not shown a reduced risk of developing HAEC or postoperative obstructive symptoms if anal dilatations are prescribed before surgery. However, it may decrease the difficulties of surgeries, so the operative time is shortened.Level of evidencePrognosis study.LevelII.     

腹腔镜辅助改良Soave术治疗成人先天性巨结肠症

目的 评价腹腔镜辅助改良Soave术治疗成人先天性巨结肠症（HD）的临床价值.方法 回顾性分析华中科技大学同济医学院附属协和医院2005年3月至2009年12月间行腹腔镜辅助改良Soave术的28例术前诊断为成人HD患者的临床资料.结果 本组28例患者均成功实施了腹腔镜辅助改良Soave术,无中转开腹.手术时间135～185（165±12）min,术中出血量50～250 ml,无一例术中输血.术后病理诊断示：19例符合HD,9例符合先天性巨结肠类缘病.术后直肠肌鞘感染2例,肛门口轻度污粪3例,平均住院时间（17.5±1.0）d.术后随访无排粪失禁及便秘复发.结论 腹腔镜辅助改良Soave术治疗成人HD安全、有效.     

Unusual variants of proctoplasty in Hirschsprung disease

The results of surgical treatment of 42 children with Hirschsprung's disease are analysed. The authors describe unusual 2-stage techniques of the perineal part of Duhamel's operation, consisting in primary downward transposition of the colon excess to the perineum and its subsequent (14 days later) removal with the formation of an intestinal intrapelvic wedge anastomosis. The method was applied in 23 children. A method of small intestinal proctoplasty in reconstructive operations in unfavourable anatomical variants of the colon is also described; it was carried out successfully in 2 patients.