Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung disease vs non-hirschsprung disease

Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when suction rectal biopsy is used to investigate chronic constipation in Down syndrome.     

Suction rectal biopsy in the diagnosis of Hirschsprung's disease and chronic constipation

Suction rectal biopsy has gained increased acceptance as the means of definitively diagnosing Hirschsprung's disease as well as excluding this diagnosis when evaluating the child with chronic constipation. During the 11-year period from 1 July 1974 through 30 June 1985 at the University of Michigan, Mott Children's Hospital, 309 suction rectal biopsy specimens were evaluated. Of these, 293 were done for the evaluation of chronic constipation and/or Hirschsprung's disease. The remaining 16 were performed as a part of the work-up in patients with neuromuscular, glycogen storage, inflammatory bowel, or other diseases. Forty-two (14%) of the 293 patients were diagnosed as having Hirschsprung's disease at an average age of 14.4 months. This diagnosis was ruled out in the remaining 251 patients, whose age at biopsy averaged 2.7 years. There was one false-negative reading representing an incidence of 0.3%, with no false-positives. There were no complications. The suction rectal biopsy is a bedside or clinic procedure that reliably provides pathologic material adequate for the accurate diagnosis or exclusion of Hirschsprung's disease and offers a number of advantages over manometric, radiographic, histochemical, and open, full-thickness biopsy techniques.     

1008例便秘患儿直肠黏膜乙酰胆碱酯酶检测结果分析

目的　了解直肠黏膜乙酰胆碱酯酶检测在便秘病因诊断中的价值及其临床意义。方法　回顾性分析 10 0 8例便秘患儿直肠黏膜AchE检测结果 ,并与其他临床资料相比对。结果　 194例先天性巨结肠症有 185例AchE阳性 ,而 6 1例同源病中仅 37例阳性 ,二者间差异有显著性意义。但不同年龄组的先天性巨结肠症假阴性的发生率无明显差异。在保守治疗成功的 5 6 6例中 ,AchE阴性与弱阳性分别占 6 7.8%与 19.2 % ,强阳性仅占 3%。 39例复发病例中AchE阳性 2 8例。 7例先天性肛门直肠畸形术后并发便秘患者AchE阳性 4例。结论　直肠黏膜AchE检测在分析小儿便秘的原因和指导治疗措施的选择等方面有重要作用     

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     

Functional constipation in children: investigation and management of anorectal motility

Background  Constipation is a common disease in children. Despite many causes, constipation is most often functional. This study was undertaken to investigate the anorectal motility in children with functional constipation as compared with healthy children and to determine the efficacy of management based on the results of anorectal manometry. Methods  A multi-functional manometry was used to detect the anorectal manometry indexes of 8 patients with functional constipation (11.4±4.8 years) as well as those of 10 healthy children (10.5±3.5 years) from May 2004 to June 2005. The patients received a combined treatment regimen including probiotics (bifid triple viable bacterial tablet), prebiotics (lactulose) and regular defecation according to the results of anorectal manometry. The efficacy of these conservative measures was estimated during the course of treatment. Results  No statistical difference was found in the indexes of effective length of the anal sphincter, anal tract maximal systolic pressure and the duration of more than 50% maximal systolic pressure between the two groups. But minimal sensitivity and maximal tolerated volume between the two groups were different significantly. Seven of the eight patients got better with the conservative treatment. Conclusions  Abnormalities exist in the anorectal motility of the children with functional constipation. Conservative treatment regimen based on the results of anorectal manometry is significantly effective.     

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

Rectal suction biopsy (RSB) is the gold standard diagnostic procedure for disorders of bowel motility. This study describes our experience with RSB stained with histochemistry as the first diagnostic approach in a large series of patients presenting with chronic constipation. Between 1993 and 2005, 766 children underwent RSB for persistent chronic constipation. The specimens were snap frozen, sectioned and stained with conventional hematoxylin and eosin (H&E) and with nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) and acetylcholinesterase (AChE) histochemical stainings. Adequate amount of submucosa was present in 655 (85.5%) out of 766 cases and formed the basis of this study. RSB in 540 (82%) patients were reported as normal. Hirschsprung's disease was found in 47 (7.2%) patients with characteristic features of absence of ganglion cells, increased AChE activity in the lamina propria and muscularis mucosae, thick nerve fibers in the submucosa, and a lack of NADPH-d-positive fibers in muscularis mucosae. RSB in 59 (9%) patients presented features of intestinal neuronal dysplasia such as submucosal hyperganglionosis, giant ganglia, ectopic ganglia and increased AChE activity in lamina propria. Hypoganglionosis was suspected in nine (1.3%) children because of sparse or absent ganglion cells and low AChE and NAPDH-d activity in muscularis mucosae. Three patients (0.4%) developed bleeding following RSB, requiring diathermy of the bleeding point. Thus, we conclude that RSB is a simple and safe method when used as the first diagnostic approach in patients with chronic constipation. The combination of two histochemical stainings techniques provides a high level of accuracy in the diagnosis of intestinal dysganglionosis.     

功能性便秘流行病学调查及临床分析

目的 调查小儿功能性便秘(FC)的发病率，探讨其临床特征。方法 采用整群调查方法，符合FC诊断者纳入观察对象；对确诊为FC患儿进行临床分析。结果 1．2～14岁1001名儿童中FC共38例，本组FC发病率为3．8％；城区发病率为4．65％，农村2．38％(yz＝2．48P＜0．05)，城区患病明显高于农村；男童FC患病率2．73％，女童4．07％(yz＝275．8lP＜0．001)；各年龄组患病率无差异；2．本组FC患儿排干硬条状成形便占74％，球形硬便占13％。82％患儿等待自行排便，多数家长未采用解除便秘措施；经常进行排便练习的患儿仅占5．26％；精神欠佳者占26％，腹痛者占21％，伴轻度营养障碍者60％，食欲欠佳及厌食占34％和21％，FC患儿很少进食水果及蔬菜者分别占42％及37％，喜甜食及肉食者为40％及53％。结论 1．本次调查小儿FC发病率为3．8％，城区高于农村，女童高于男童；2．FC患儿生活质量及生长发育受一定影响，应予以关注；3．FC患儿饮食结构有偏差。     

Rectal mucosal/submucosal biopsy under general anesthesia ensures optimum diagnosis of bowel motility disorders

Purpose

We reviewed all rectal mucosal/submucosal biopsies (RMSBx) performed between 1986 and 2015 focusing on specimen quality, incidence of complications during and after biopsy, and parental satisfaction.

Methods

From 1986 to 2004, RMSBx were performed without general anesthesia (GA) (N-GA; n = 98) and from 1995 to 2015 were performed under GA (GA; n = 525). In GA cases, some sections were stained intraoperatively and examined by a pathologist and pediatric surgeon immediately to identify ganglion cells.

Results

Mean ages at RMSBx were similar (2.7 vs. 2.5 years; p = NS). There were significantly more inadequate specimens in N-GA [18/98 (18.4 %) vs. 0/525 (0 %); p < 0.0001]. Incidence of rectal bleeding requiring transfusion was significantly lower in GA [0/525 (0 %) versus 2/98 (2.0 %); p = 0.024]. Parents of GA subjects willingly consented to RMSBx when told GA would facilitate diagnosis. Incidentally, RMSBx was more expensive in GA (US$1320 versus US$294; using ¥120 = US$1).

Conclusion

RMSBx performed under GA are safe and all specimens obtained included submucosa appropriate for optimum diagnosis in all the cases.

     

The barium enema in constipation: comparison with rectal manometry and biopsy to exclude Hirschsprung's disease after the neonatal period

Background. The diagnosis of Hirschsprung's disease is usually made in neonates but often considered in older infants and children with constipation: these children may be referred for barium enema. Since it is widely accepted that a normal barium enema does not exclude Hirschsprung's disease, some children, after a normal enema, undergo more invasive procedures such as rectal manometry or biopsy. Our study asked how frequently a diagnosis of Hirschsprung's disease was made by biopsy or manometry in children who had normal barium enema.¶Materials and methods. We reviewed the medical records and barium enemas of 54 patients older than 28 days with constipation or difficulty passing stool who had a barium enema followed by manometry and/or biopsy.¶Results. Forty-eight patients had normal enemas: 24 of those patients had biopsies, 16 had manometry, and 8 both manometry and biopsy. Only 1 had manometry suggestive of Hirschsprung's disease, confirmed by biopsy. Six patients had abnormal enemas. Five had biopsy and manometry compatible with Hirschsprung's disease; one had a normal biopsy and manometry study.¶Conclusion. The barium enema is a good initial screening test for Hirschsprung's disease in severely constipated children since it correlates well with manometry and biopsy. The enema is particularly useful in centers without easy access to pediatric gastroenterology services, and a normal enema in this setting allows the continuation of medical therapy with further evaluation only if there is a lack of response. An abnormal enema, however, requires referral to a facility equipped to perform confirmatory manometry or biopsy.     

Megarectum in constipation

BACKGROUND—Faecal impaction is frequently observed in children with chronic constipation. The term megarectum is often used to describe this finding.AIM—To evaluate rectal functioning and rectal measures in constipated children with a filled rectum, in order to define the terms faecal impaction, enlarged rectum, and megarectum.METHODS—All children underwent radiological investigation, colonic transit time study, anorectal manometry, and rectal volume and rectal wall compliance measurements. Patients with faecal impaction were compared with controls, who had an empty rectum on digital rectal examination.RESULTS—A total of 31 patients and six controls were included in the study. The mean duration of complaints was 4.2 years and all had faecal incontinence. The colonic transit times in the patients showed a distinct delay in the rectosigmoid segment. Anorectal manometry was not significantly different between patients and controls. The rectal width in patients was 0.68 and in controls 0.52 with an upper limit of 0.61. The pressure-volume curve in patients showed significant less relaxation at a distension of 50 ml. The slope of the curve (corresponding with rectal wall compliance) was comparable for patients and controls.CONCLUSIONS—We suggest that faecal impaction is a filled rectum found on digital rectal examination; an enlarged rectum is defined by a rectopelvic ratio greater than 0.61; and megarectum is defined in those with significant abnormalities found with anorectal manometry, pressure-volume curves, or rectal compliance investigation. A diminished relaxation of the rectum on rectal distension could be the first sign of megarectum in children with chronic constipation.     

Variability in the management of childhood constipation

To assist primary care providers, the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) published clinical practice guidelines for management of childhood constipation. A cross-sectional survey of pediatricians from across the United States was conducted to assess pediatricians' constipation management strategies, whether pediatricians are familiar with the NASPGHAN constipation guidelines, and reasons pediatricians refer constipated patients to a pediatric gastroenterologist. Overall, 75% of pediatricians used polyethylene glycol without electrolytes to treat childhood constipation, 8% of pediatricians were aware NASPGHAN had published constipation guidelines, and parental pressure was just one reason pediatricians referred constipated patients to a pediatric gastroenterologist.     

儿童功能性便秘与慢性传输型便秘

儿童功能性便秘 (functionalconstipation ,FC)在罗马Ⅱ标准关于儿童功能性胃肠病 (functionalgastrointestinaldisorders ,FGIDs)分类中已被列入排便紊乱中[1],借以区分胃肠动力疾病 (disorderofgastrointestinalmotility ,DGIM)中由于结肠运动障碍、结肠移行时间延迟而导致的