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.     

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.     

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.     

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.     

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     

A CLINICAL EVALUATION OF ANORECTAL ELECTROMYOGRAPHY IN THE DIAGNOSIS OF HIRSCHSPRUNG'S DISEASE

Abstract. Sharma, L., Marya, R. K. and Chandran, A. P. (Paediatric Surgery Unit and Department of Physiology, Medical College Hospital, Rohtak, India). A clinical evaluation of anorectal electromyography in the diagnosis of Hirschsprung's disease. Acta Paediatr Scand 7: 865, 1981.-This is a study of the relative accuracy of anorectal electromyography in the diagnosis of Hirschsprung's disease. The electromyographic diagnosis was substantiated by positive histologic findings in 22 of 25 patients examined. There was no false positive electromyographic pattern in 20 control cases.     

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     

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.     

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     

先天性巨结肠术后直肠肛管向量测压的研究

目的：应用直肠肛管向量测压技术评估先天性巨结肠患儿术后肛门括约肌功能。方法：利用直肛管向量测压技术，对42例先天性巨结肠患儿术后及21例正常儿进行肛门括约肌功能的评估。结果：根据临床症状将患儿分为污便组、便秘组和排便功能良好组。巨结肠患儿术后肛管静息压力及向量容积均显著低于正常儿（P＜0．01），污便组的静息压力及向量容积明显低于排便功能良好组，对称指数无明显变化，14．3％恢复了直肠肛门抑制反射。结论：先天性巨结肠患儿术后肛管最大压力及向量容积下降。直肠肛管向量测压技术是评估先天性巨结肠患儿术后肛门括约肌功能较客观全面的方法。     

肠无神经节细胞症患儿术后肛门直肠测压的应用研究

目的：探讨经肛门 Soave 巨结肠根治术后患儿排便功能及直肠肛管测压的应用价值。方法回顾性分析经术后病理检查证实的61例肠无神经节细胞症（Hirschsprung＇s disease,HD）患儿临床资料,均行经肛门 Soave 巨结肠根治术,其中腹腔镜辅助手术16例。术后平均随访1年（3个月至2年）,根据手术年龄分为婴儿组（0～1岁）及幼儿组（1岁以上）。对患儿术后大便控制能力、并发症情况及肛门直肠测压结果进行比较。结果婴儿组术后排便控制情况与幼儿组比较,差异无统计学意义（P ＞0.05）。肛门直肠测压检查显示术前直肠肛管抑制反射总阴性率为95.1％（58／61）,术后均未恢复;两组直肠静息压、肛管静息压比较,差异无统计学意义（P ＞0.05）。结论经肛门 Soave 巨结肠根治术治疗小儿肠无神经节细胞症,术后可获得良好的排便控制功能,可作为首选术式;肛门直肠测压的术前诊断价值较高,术后短期随访作用有限。     

Hyperganglionosis mimicking Hirschsprung's disease.

Three patients with hyperganglionosis are reported in whom an initial diagnosis of Hirschsprung's disease was suspected. In one patient there was a classic presentation with constipation, in another Hirschsprung's disease coexisted, and in the third the initial inadequate suction rectal biopsy specimen was suggestive of Hirschsprung's disease on acetylcholinesterase staining. Evidence of hypertrophy and hyperplasia of the intermuscular and submucosal plexuses on a full thickness bowel biopsy specimen was used to confirm the diagnosis of hyperganglionosis, suggested by the characteristic demonstration of moderate increase in the number of acetylcholinesterase stained nerve fibres in the lamina propria mucosae on rectal biopsy. Surgical management was guided by clinical signs. Two patients had colonic resections; the third had temporary stomal diversion. Hyperganglionosis is rarer than Hirschsprung's disease but is known to mimic it. We suggest full thickness bowel specimens are needed to confirm the diagnosis and that inadequate rectal suction biopsies must be interpreted with caution.     

A five-year chart review of children biopsied to rule out Hirschsprung's disease

A 5-year chart review of all children biopsied to rule out Hirschsprung's disease was conducted at Johns Hopkins Hospital. A total of 150 (90%) charts of the 160 children who were biopsied were obtained and reviewed. Twenty-four children (16%) had aganglionosis by surgical pathology report. All had the onset of symptoms in the neonatal period. Ninety-seven percent of children without Hirschsprung's disease and who were biopsied after the neonatal period did not have symptoms during the first 4 weeks of life. Despite having severe symptoms from birth, nine (37.5%) of the children with Hirschsprung's disease were not biopsied until an average age of 15 months. Data indicate that using the presence of bowel symptoms from the neonatal period as criteria for referral for biopsy would have missed none of the children with Hirschsprung's disease. Children with symptoms dating from the neonatal period should be considered for biopsy to avoid potential morbidity and mortality from the complication of enterocolitis.     

Acetylcholinesterase-stained suction rectal biopsies in the diagnosis of Hirschsprung's disease.

Conflicting reports in the literature regarding the sensitivity and specificity of the acetylcholinesterase (AChE) stain in establishing or excluding the diagnosis of Hirschsprung's disease (HD) prompted this review of 497 rectal biopsies performed on 455 children. Using hematoxylin and eosin (H&E) to stain formalin-fixed, paraffin-embedded tissue sections is our preferred method of identifying ganglion cells. In this series, however, there were eight children with HD, and nine without HD in whom the AChE-stained portion of the sample provided invaluable diagnostic information not obtained from the concomitant, formalin-fixed, H&E-stained portion of the sample. The AChE stain also provided at least suggestive evidence of HD in some of the anal or anorectal biopsy specimens.     

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.     

Colostomy shift en masse—a new procedure

Colostomy shift en masse is a novel technique in which the colostomy is shifted along with a rim of skin and abdominal wall tissue. This provides additional length of distal bowel if needed during pull-through anastomosis. We have treated three cases (two Hirschsprung's disease and one anorectal malformation) with colostomy shift en masse, and have achieved good results.     

经肛巨结肠根治术后患儿的肛肠功能评价

目的：经肛门巨结肠一期根治术近期效果好,但术后患儿的肛肠功能目前尚不十分清楚。该文旨在评估患儿术后的排便模式,结肠和肛门括约肌功能。方法：对58例经肛门巨结肠根治术后半年以上儿童进行随访,随访时间为15.8 月 (6～24 月)。并进行排便功能问卷调查、钡灌肠、结肠传输时间和肛门直肠测压检查。33例正常儿童作为对照。结果：大多数随访患儿排便正常,无任何临床症状。４例出现稀便便频,9例污便,5例便秘,3例小肠结肠炎。钡灌肠结果显示大多数随访患儿结肠形态恢复良好。全部病例术后直肠肛管角（度）较对照组显著开大,有症状组较无症状组显著开大。58例随访患儿的平均全胃肠、左半结肠和右半结肠传输时间较术前显著缩短,与对照组相比差异无显著性意义。直肠肛管反射5例阳性。便秘组的肛管最大静息压和最大收缩压明显高于无症状组和对照组。污便组向量容积和对称指数较对照组显著降低。便秘组对称指数显著高于对照组。结论：经肛门巨结肠根治术后大多数患儿排便功能、结肠功能和括约肌功能良好。少数病例排便功能障碍可能与术后乙状结肠曲减少或消失、“新直肠”储便功能代偿不全和拖出结肠致直肠肛管角开大、肛门括约肌痉挛失弛缓有关。［中国当代儿科杂志,2007,9（3）：188-192］     

Enterocolitis following endorectal pull-through procedure in children with Hirschsprung's disease

The enterocolitis following a pull-through in Hirschsprung's disease can be life-threatening and difficult to distinguish clinically from gastroenteritis and post-operative complications. We reviewed retrospectively the abdominal radiographs in our series to identify specific radiographic characteristics of this syndrome in this population. A total of 55 episodes of enterocolitis with an abdominal series at presentation were located in the files of 43 patients following pull-through surgery for Hirschsprung's disease. There were 15 abdominal series with other complications of Hirschsprung's disease and surgery (seven cases of small bowel obstruction, one of fistula, one of abscess, six of severe constipation) and 71 surveillance follow-up studies. Radiographs were evaluated for bowel dilatation, air-fluid levels, intestinal cut-off sign, spiculation, and pneumatosis. The intestinal cut-off sign with two or more air-fluid levels had sensitivity of 68% and specificity of 83%, with a positive predictive value of 0.71 and overall accuracy of 77%. Our review of enterocolitis following pull-through in children with Hirschsprung's disease concludes that the constellation of an intestinal cut-off sign and at least two air-fluid levels on the abdominal series strongly suggests the diagnosis.Portions of this paper were presented at the Society for Pediatric Radiology meeting in Seattle in May 1993     

Hirschsprung's disease: current management and prospects for transplantation of enteric nervous system progenitor cells

Hirschsprung's disease affects 1 in 5000 newborns and is caused by an absence of ganglion cells in a variable length of the distal gut. It commonly presents in the newborn period with life-threatening bowel obstruction requiring surgery. Despite apparently successful surgery the long-term outcomes are often unsatisfactory with some children facing a lifetime of continence issues or debilitating constipation. This article exams the reasons for this and describes advances that have occurred in the surgical management of the disease. In the last two decades rapid progress has been made in understanding the genetics and molecular pathology of Hirschsprung's disease. The potential for harnessing this knowledge to develop a stem cell based therapy for Hirschsprung's disease is discussed.     

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