Anorectal manometry for the exclusion of Hirschsprung's disease in neonates

We studied the usefulness of anorectal manometry in excluding Hirschsprung's disease in 25 neonates with signs and symptoms of intestinal obstruction. An intraluminal pressure transducer or perfused side-opening catheters were used to evaluate anal tone, anal rhythmicity, and internal sphincter relaxation during rectal distention. Hirschsprung's disease was diagnosed by rectal biopsy in 16% of the neonates. Studies using anorectal manometry gave one false positive and one false negative diagnosis of Hirschsprung's disease, which resulted in 75% sensitivity, 95% specificity, and a kappa coefficient of 0.7. We found that anorectal manometry, a rapid and atraumatic test, is a reliable screening test for exclusion of neonatal Hirschsprung's disease. By using the combination of manometry and contrast enema, it is possible to eliminate the need for a confirmatory rectal biopsy in many neonates suspected of having Hirschsprung's disease.     

Anorectal myectomy in treatment of ultrashort segment Hirschsprung's disease. Report of 26 cases

A diagnosis of Hirschsprung's disease should be considered in children with constipation. An accurate neonatal history of bowel function and testing of anorectal pressure responses will aid the diagnosis. In the period 1971-75 inclusive, 140 children, aged 6 months to 14 years, were investigated by anorectal manometry. 26 showed a failed inhibition response to rectal dilatation, suggesting Hirschsprung's disease and were treated by anorectal myectomy. In 24 the disease was confirmed histologically. Two specimens were diagnostically unsuitable. 4 required repeat myectomies, and 3 anterior resection. At follow-up all had normal bowel movements without soiling.     

Clinical evaluation of diagnostic methods for Hirschsprung's disease

The results of a comparative study of diagnostic methods for Hirschsprung's disease are reported. Since December 1979, the authors have studied four new methods. First, anorectal manometry, a simple, safe, and atraumatic method with a high diagnostic success rate of over 92.6%. Patients with Hirschsprung's disease have no relaxation reflex. By using manometry, one may differentiate idiopathic megacolon from ultrashort segment aganglionosis, but there is a high false-negative rate (63.3%) in normal newborns. Second, rectal mucosal acetylcholinesterase (AChE) histochemistry had a high success rate of 96.6% in 58 cases of Hirschsprung's disease. Two cases showed false-negative results that seemed to be related to incorrect manipulation. In 6 cases of neonatal Hirschsprung's disease, the success rate was 100%. Third, erythrocyte AChE activity was assessed in 59 newborns and children with Hirschsprung's disease; in 45, this activity was 92.11 ± 9.66 U/ml, which was higher than that of 127 normal controls (P < 0.001). The erythrocyte AChE activity of 14 neonates with Hirschsprung's disease was 73.31 ± 8.82 U/ml, higher than that of 32 normal controls (50.32 ± 8.54 U/ml, P < 0.0001). The results showed that erythrocyte AChE activity was proportional to the length of aganglionic bowel and its activity was prone to decrease after resection of the abnormal segment. The erythrocyte AChE assay may be used as an initial screening test in cases of suspected Hirschsprung's disease. Fourth, have not yet had enough experience with electromyography to evaluate it.The authors believe that by combining these different methods, a correct diagnosis of Hirschsprung's disease can be made without a full-thickness biopsy, even in atypical and difficult cases. Offprint requests to: She Yaxiong, at the above address     

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.     

新生儿先天性巨结肠直肠肛管压力监测及其临床意义

目的　探讨直肠肛管测压检查在新生儿先天性巨结肠 (HD)早期诊断中的应用价值。方法　对 4 2例经手术病理或直肠粘膜活检确诊的新生儿HD患儿的术前直肠肛管压力监测结果进行评价分析 ,并与X线钡灌肠进行比较。结果　直肠肛管测压 18例未出现直肠肛管抑制反射(RAIR) ,12例RAIR反射异常 ,确诊HD30例 ,诊断符合率 71 4 3%。X线钡灌肠确诊HD 5例 ,可疑HD14例 ,诊断符合率 4 5 2 4 %。直肠肛管测压阳性而钡灌肠阴性者 16例 ,钡灌肠阳性而直肠肛管测压阴性者 5例。检查结果的不同部分进行统计学处理 χm2 =4 76 ,P <0 0 5 ,差异有显著意义。结论直肠肛管压力监测在新生儿HD诊断中优于X线钡灌肠。该检查方法简单、安全、有效、无创伤性 ,可作为新生儿期怀疑HD患儿的首选检查 ,但必须结合其他检查手段才能作出确切诊断     

Accuracy of anorectal manometry in the diagnosis of Hirschsprung's disease

The value of anorectal manometry as a diagnostic tool for Hirschsprung's disease (HD) was assessed in 50 children presenting with chronic constipation. Anorectal manometric studies and rectal biopsy were performed on all children. Biopsy specimens were stained with hematoxylin and eosin and serial sections were examined for ganglion cells. Forty-five children had concordant manometric and histologic results, 15 of whom were positive for HD and 30 negative. In five children, the results were discordant. Using histologic aganglionosis as the reference point for the final diagnosis of HD, the overall accuracy of anorectal manometry as a discriminative test was 90.0%. The sensitivity, specificity, and positive and negative predictive values of manometric studies for the diagnosis of HD were 0.79, 0.97, 0.94, and 0.88, respectively. Factors responsible for the inaccuracies of manometric studies are discussed.     

Bowel function, mental health, and psychosocial function in adolescents with Hirschsprung's disease

Congenital intestinal malformations are uncommon and may pose lasting somatic difficulties. Patients with anorectal anomalies have a high frequency of persistent faecal dysfunction and psychosocial problems. This study examined whether adolescents with Hirschsprung's disease have more psychosocial problems than their healthy peers. Nineteen adolescents (mean age 15.7 years) with Hirschsprung's disease were assessed for bowel function, anorectal physiology, mental health, and psychosocial functioning by physical examinations, semistructured interview, and standardised questionnaires. The adolescents were compared with controls. The parents of 13 adolescents with Hirschsprung's disease were interviewed and completed questionnaires. Thirty two per cent of the adolescents with Hirschsprung's disease had significant impairment of continence, but no more psychopathology (16%) nor psychosocial dysfunction as a group than their healthy peers. Faecal incontinence was associated with poorer psychosocial functioning and parental criticism. The fact that a significant number of patients with Hirschsprung's disease have incontinence into adulthood indicates the need for parental counselling, encouraging realistic expectations about continence.     

Congenital segmental dilatation of the colon: report of a case and review of the literature

Segmental dilatation of the colon is a rare lesion. A patient with this lesion complicated by chronic constipation from birth is described. Although the clinical picture and radiographic studies are indistinguishable from Hirschsprung's disease, anorectal manometric studies and a rectal mucosal biopsy are of paramount importance for the diagnosis of this condition. This disease can be cured by resection of the dilated segment. Offprint requests to: N. Komi     

先天性巨结肠同源病:临床诊断与手术指征的确立

目的 报道一组前瞻性的先天性巨结肠同源病(HAD)临床研究总结.方法 2007年6月至2009年12月单一手术组连续行65例巨结肠根治术病例,依据临床症状、直肠肛管测压、直肠黏膜胆碱酯酶组化(AchE)组织化学染色以及钡灌肠检查做出术前诊断.先天性巨结肠症(HD)一旦确诊即有手术指征.HAD手术指征:依临床检查初步诊断后实行严格、系统的保守治疗3～6个月,经治疗无效或有效后又复发者.结果 临床初诊病例HD组为38例,HAD组为27例;术后经病理学诊断最后确诊HD组36例,HD组内有4例证实为HAD,术前误诊率为10.5%(4/38),HAD组最后病理确诊29例,HAD组内2例最后病理诊断为HD,术前误诊率为7.4%(2/27);HAD组中节细胞减少症(HG)22例(75.9%),肠神经元发育不良症(IND)7例(24.1%).HAD组27例(93.1%)存在直肠肛管抑制反射,但反射波形出现变异和延迟;AchE组化染色阳性为12例(41.4%),2项结果与HD组相比差异有统计学意义(P＜0.01);HAD病例钡灌肠检查特点:直肠高度扩张,直肠直径达盆腔的90%以上;超过90%的HAD病例有乙状结肠冗长;24 h后复查钡滞留(100%).29例HAD患儿中9例行次全切除术(31.0%),HD组36例中次全切除为8例(22.2%).结论 测压、AChE组化染色和钡灌肠检查仍是诊断HAD的重要方法.初步诊断HAD后,采取3个月到半年的严格保守治疗措施对最后确定手术指征非常重要.由于HD和HAD症状和检查结果在一定程度上相互重叠,致使HAD和HD病例术前可误诊,但这种误诊对手术指征的确定并无影响.     

The nature of neurogenic damage to the external anal sphincter in children treated for Hirschsprung's disease

Children with faecal continence problems following surgical pull-through procedures performed for Hirschsprung's disease were investigated by concentric needle electromyographic studies of the external anal sphincter and puborectalis. The results were compared with those from a control group of children incontinent following correction of anorectal anomalies. In the Hirschsprung group the motor unit potentials in the external sphincter, but not in puborectalis, showed florid abnormalities with increased complexity and duration of the waveform, often with blocking and increased jitter, indicative of a continuing process of denervation and reinnervation. In four of the five patients with Hirschsprung's disease who were tested, pudendal nerve terminal latencies were increased, suggesting neurogenic damage to the external sphincter. Where such changes are found in children incontinent following surgery for Hirschsprung's disease, they may indicate a need for modified clinical management.The protocols used in this study were approved by the Standing Committee on Ethical Practice of the Hospital for Sick Children. Offprint requests to: S. G. Boyd     

巨结肠类缘性疾病肛管测压、直肠黏膜活检和钡灌肠检查的意义

目的　根据病理学的诊断依据 ,评价先天性巨结肠类缘性疾病 (HAD)中直肠肛管测压、直肠黏膜活检AchE组化染色和钡灌肠检查的特点 ,了解其在诊断上的意义。方法　 1999～ 2 0 0 1年间 92例临床诊断为先天性巨结肠 (HD)或巨结肠类缘性疾病并施行手术的患儿 ,根据病理诊断排除HD和HAD共存病变病例 ,筛选出HD 4 0例 ,其中男 36例 ,女 4例 ,平均年龄 2 1个月 ;HAD 34例 ,其中男 2 1例 ,女 13例 ,平均年龄 6 3个月。研究二组的临床征候指标以及在经典的测压、组化以及钡灌肠三项检查上的差别。结果　二组病例相比 ,三项检查每项指标间都存在着极显著差异 (P <0 .0 1) :在HAD组患儿 ,85 %都存在有直肠肛管抑制反射 ,其反射波出现特征性的“W”、“U”波形 ;直肠黏膜AchE组化染色 79%为阴性 ;钡灌肠常不能发现明显的狭窄、移行段 ,但有明显的结肠扩张和2 4h钡滞留。结论　HD和HAD是都以便秘为主要表现的两种不同的疾病。经典的三联检查在HAD的诊断和鉴别上也具有重要意义     

先天性巨结肠诊疗规范化的再思考

先天性巨结肠(Hirschsprung's disease,HSCR)是小儿肛肠外科常见疾病,规范化的诊疗可以减少HSCR的误诊与误治,降低手术并发症的发生率和再次手术的概率.然而,我国大陆地区HSCR的诊疗策略经过数十年发展与演变仍未统一,一些诊疗的关键标准仍欠规范.近年来国内关于HSCR的临床研究和指南针对以上问题...     

ACTIVITY OF THE INTERNAL ANAL SPHINCTER DURING THE FIRST DAYS OF LIFE

Abstract. Frenckner, B. & Molander, M.-L. (The Department of Paediatric Surgery, St. Göran's Hospital, Stockholm, Sweden). Activity of the internal anal spincter during the first days of life. Acta Paediatr Scand, 69: 73, 1980.—Manometric recordings of the internal anal sphincter activity are frequently used in the diagnosis of Hirschprung's disease. Normally, there is a relaxation of the internal sphincter in response to a rectal distension, but this is absent in Hirschprung's disease. In order to study the normal physiology during the first days of life, 17 healthy full-term infants were examined daily with ano-rectal manometry during the first four days of life. Resting anal pressure was lower than in older children. Internal spincter relaxation was recorded in all infants but one on the first day, in all on the second and finally in all but one on the third and fourth days. The results indicate that anorectal manometry may be used in the diagnosis of Hirschsprung's disease also in the newborn period. However, repeated examinations may be necessary and the diagnostic reliability may be somewhat lower than in older children     

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.     

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     

Electromyographic studies on the external anal sphincter in children with operated anorectal malformations.

Fecal incontinence is a common problem after surgical repair in patients with anorectal malformations. A normally functioning external anal sphincter (EAS) mechanism is a major factor for continence. The aim of this study was to assess the function of the EAS in children with operated anorectal malformations by electromyography (EMG) and to refine the sphincter function further. The study group consisted of 8 patients with incontinence problems who were operated for anorectal malformations. The electrical activity of EAS was evaluated by EMG using concentric needle electrodes in all subjects. The presence, localization, integrity and activity of the sphincter were assessed. Seven of 8 patients showed electrical activity of the EAS. Sphincter localization was found to be appropriate in six children. Five children showed a well preserved sphincter integrity and 2 of them disclosed normal EMG activity. In cases of localization or integrity abnormalities, secondary corrective surgery was planned, while in patients showing only abnormal EMG activity, biofeedback treatment was given. In cases of fecal incontinence in patients with operated anorectal malformations, electromyographic study shows the type of sphincter abnormality and further helps to make a decision whether to improve the EAS function with conservative treatment or surgically.     

An epidemiological study of Hirschsprung's disease and additional anomalies

Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Pædiatr 1994;83:68–71. Stockholm. ISSN 0803–5253.
The incidence of Hirschsprung's disease was studied in approximately 1.5 million consecutive live births in Denmark by hospital records. A diagnosis of Hirschsprung's disease required a histologic verified absence of ganglion cells in either biopsy or surgical colonic specimens. The incidence of Hirschsprung's disease was found to be 0.140 per 1000 live births (1:7,165) with a male: female ratio of 4.1:1 in short segment, and 2.4:1 in long segment Hirschsprung's disease (p = 0.36). Maternal age and birth order were unimportant factors. The association of Hirschsprung's disease and Down's syndrome was seen in 9 of the 207 patients and may represent a real association, whereas the association with congenital heart defects seen in 2% (not including patients with Down's syndrome) is more doubtful. A mortality of 16% among the patients with Hirschsprung's disease emphasizes the extreme importance of early diagnosis.     

ANO-RECTAL MANOMETRY IN THE DIAGNOSIS OF HIRSCHSPRUNG'S DISEASE IN INFANTS

ABSTRACT. Manometric recordings of internal sphincter activity were performed during distension of the rectum in 10 healthy control infants and in 9 infants with clinical signs of Hirschsprung's disease. In 8 of the healthy infants relaxations of the internal sphincter were obtained, which were maximal 4 to 7 secs after rectal distension. This was also the case in S of the patients who were later proven not to have Hirschsprung's disease. In 3 patients no relaxations of the internal sphincter could be recorded. Subsequent rectal biopsy revealed absence of ganglion cells, confirming the diagnosis Hirschsprung's disease. The remaining 3 infants (2 controls and 1 patient) could not be calmed during the examination and the results were inconclusive. It is concluded that ano-rectal manometry is a valuable method of examination in the diagnosis of Hirschsprung's disease in infants. No false results were obtained in this study. Furthermore, it is an easy procedure without risk or discomfort for the patient.     

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     

肛门直肠畸形合并先天性巨结肠的诊治

目的 总结儿童先天性肛门直肠畸形(ARM)合并先天性巨结肠(HD)的临床特点,探讨其病因和适宜的诊治方法.方法 回顾性分析2004年1月至2008年4月6例ARM合并HD患儿的临床资料、诊治过程及预后情况.年龄1岁8个月～1I岁,平均4.1岁;男女比例1:5.所有病例于ARM矫正手术后有不同程度便秘、腹胀等症状,钡灌肠显示结直肠均有显著的扩张,仅有2例可见明确痉挛段和移行段.6例患儿直肠肛管测压直肠肛门抑制反射不能引出.2例采用经肛门Soave术式,4例采用经腹肛门Soave巨结肠根治术.结果 术后病理检查6例标本远端肠壁内均未见神经节细胞.免疫组化组织蛋白酶D:近段阳性,远端阴性.结论 对于ARM患儿,特别是对于ARM畸形矫正术后仍有便秘的患儿要警惕合并HD的可能.此外,ARM合并HD患儿往往同时存在有多种畸形,在胚胎发育过程中这些畸形的发生可能存在着一定的关联.