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.     

婴儿期便秘肛门直肠测压的临床评估

目的对临床有便秘表现的1岁以内婴儿进行肛门直肠测压检查,对其结果进行临床评估。方法2004年1月至2008年6月,作者对126例因便秘就诊的婴儿进行肛门直肠测压检查。用白行制作的球囊替代原有球囊进行检查,结合钡剂灌肠、直肠黏膜活检等方法。在测压检查后进行1至3个月随访。结果126例中,未出现内扩约肌松弛反射的婴儿76例,其中钡剂灌肠检查明确诊断为先天性巨结肠70例;50例有内括约肌松弛反射出现,经保守治疗1至2个月后门诊随访,其中39例能自行排便,便秘改善,7例偶尔用泻剂辅助治疗,4例症状无缓解,经强力扩肛及Lynn氏手术后,能自行排便。结论 肛门直肠测压是诊断先天性巨结肠的方法之一,对1岁以内便秘患儿进行肛门直肠测压检查时应将测压的球囊进行改进,使其适应1岁以内婴儿,同时应用少量镇静催眠药,对内括约肌松弛反射阴性者可作1～3次反复检查,以提高诊断准确率。     

How useful is the barium enema in the diagnosis of infantile Hirschsprung's disease?

We studied the usefulness of the barium enema to rule out Hirschsprung's disease (congenital megacolon) in the evaluation of infants with constipation. Results from barium enemas in 58 constipated infants and children who underwent rectal suction biopsies to rule out aganglionosis were evaluated in retrospect for the presence of a transition zone, delayed evacuation of barium, and colonic anatomic abnormalities. As expected, the presence of a transition zone was most accurate in predicting Hirschsprung's disease. Eighty percent of infants with aganglionosis had a roentgenographic transition zone, while 20% did not. Twenty-nine percent of infants with a suspected roentgenographic transition zone did not have aganglionosis. Delayed evacuation of barium was a poor predictor of aganglionosis. The presence of delayed evacuation of barium did not improve the accuracy of the transition zone to predict Hirschsprung's disease. Barium enemas did not reveal any additional colonic anatomic defects other than a transition zone to account for constipation in our study group. These results demonstrated that the barium enema is not a specific enough screening procedure to rule out Hirschsprung's disease in the unobstructed infant. Rectal suction biopsy is diagnostic and should be performed as the procedure of choice in those infants suspected of having Hirschsprung's disease.     

Hirschsprung's disease: outcome and how to follow-up

Definitive treatment of Hirschsprung's disease involves ‘pull-through’ surgery, either as a primary procedure or following formation of a preliminary colostomy. Regular follow-up is essential postoperatively as children often have problems with stool frequency, peri-anal excoriation, constipation or even recurrent episodes of enterocolitis. In the long term, 20–30% of children will suffer from significant constipation and/or soiling, and approximately 10% will have such severe problems that they may require re-formation of a stoma.It is essential that parents be given a realistic expectation of outcome. They should be informed from the beginning that a significant number of children require aperients and enemas in the long term, while many experience continence problems extending into adolescence. Nonetheless, the majority of children with Hirschsprung's disease will attain a socially satisfactory bowel habit.     

结肠次全切除术治疗巨结肠同源病23例

目的探讨小儿巨结肠同源病(HAD)的诊断和治疗方法。方法回顾性分析23例巨结肠同源病的病例资料,男8例,女15例,年龄5个月～16岁,其中5个月～3岁4例,3～16岁19例。患儿均以便秘、腹胀为主诉,术前常规行钡灌肠、直肠肛管测压检查。其中11例行直肠粘膜活检术;5例因肠梗阻行结肠造瘘术;3例为先天性巨结肠术后复发便秘。结果全部病例均行腹会阴Soave法结肠次全切除术。23例中,钡剂灌肠均未见明显狭窄段、移行段,24h延迟拍片提示钡剂滞留;部分病例有结肠扩张和结肠冗长表现;直肠肛管测压均有抑制反射,11例直肠粘膜活检AchE阴性。23例术后病理诊断与术前诊断一致。术后均有不同程度腹泻,1例出现伤口裂开,2例直肠粘膜脱垂,2例粘连性肠梗阻;无吻合口瘘、肌鞘感染等并发症。结论腹会阴Soave法结肠次全切除术是治疗HAD较为彻底的术式。     

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     

Clinical approach to fecal soiling in children

Fecal soiling is common in childhood and can be caused by stool toileting refusal, fecal incontinence due to organic disease, or encopresis due to functional constipation. Anatomical, neurologic, and inflammatory causes for fecal soiling are ruled out by history and physical examination and, if necessary, by anorectal manometry, barium enema, and rectal biopsy. The initial treatment suggestion for children with stool toileting refusal is to put the child back into pull-ups or diapers. Most children with fecal soiling due to organic disease continue with some degree of incontinence despite optimal medical management. Antegrade enema administration helps those with severe fecal incontinence due to organic causes who do not respond to medical management. Successful treatment of constipation and encopresis requires a combination of medical therapy, nutritional intervention, behavioral intervention, and long-term compliance with laxative use. The combined treatment approach improves the constipation and encopresis in all patients who comply with the treatment program. In some children, cow's milk protein intolerance may be the cause. In them, cow's milk protein needs to be eliminated.     

Hirschsprung's Disease: a Clinical and Pathologic Study in Iranian Constipated Children

Objective

Hirschsprung''s disease (HD) is a complex disorder resulting from absence of ganglion cells in the bowel wall leading to functional obstruction and bowel dilatation proximal to the affected segment. The aim of our study was to evaluate rectal biopsies from constipated children in different age groups to see in which age it is more likely to encounter HD to avoid unnecessary rectal biopsy.

Methods

Records of all children with chronic constipation undergoing a rectal biopsy to exclude HD were obtained from the files of Children''s Medical Center in Tehran, Iran. A detailed retrospective demographic review, including age of beginning of signs and symptoms was made of all cases.

Findings

Totally, 172 biopsies were taken from 168 children in a five year period, of which 127 cases (75%) had HD. The mean age of constipated patients at biopsy was 39 months and the mean age of patients with proven HD was 18 months. Males were affected more than females. Congenital anomalies associated with HD were found in 9.6%. In 85 (91%) cases constipation had begun in neonatal period.

Conclusion

Our data supports previous studies that if constipation begins after the neonatal period, the child is unlikely to have HD. In neonates delay in meconium passage is the most important clinical sign of HD.     

Allergic colitis: a mimic of Hirschsprung disease

Background. Allergy to cow milk protein is a common cause of gastrointestinal symptoms in infancy. Milk allergy is usually a clinical diagnosis, and thus there have been few reports of the radiographic findings. Objective. To describe the barium enema findings of allergic colitis and differentiate them from Hirschsprung disease. Materials and methods. Four infants (age range 7 days–5 weeks) with constipation underwent barium enema to exclude Hirschsprung disease. Radiographic findings were correlated with the pathologic specimens from suction rectal biopsy. Results. All enemas revealed irregular narrowing of the rectum and a transition zone. Rectal biopsies in each case demonstrated ganglion cells and evidence of an allergic colitis, with inflammatory infiltrates in the lamina propria. A diagnosis of milk allergy colitis was made and symptoms resolved after removal of milk from the diet. Conclusions. Milk allergy is common in infancy. The rectum is a primary target organ, with allergic colitis often diagnosed on clinical grounds alone. However, a child with allergic colitis may be referred to radiology for barium enema, especially if constipation is present. The radiologist should be aware of the unique imaging findings of allergic colitis, so as to avoid confusion with Hirschsprung disease and perhaps an unnecessary rectal biopsy. Received: 11 March 1998 Accepted: 15 June 1998     

直肠肛管测压对先天性巨结肠诊断价值的研究

目的 以直肠全层活检病理诊断（FTB）为金标准,X线钡灌肠（CE）为对照,探讨直肠肛管测压（ARM）对先天性巨结肠（HD）及巨结肠类源病（HAD）的诊断意义. 方法 收集2011年1月至2013年1月期间华西医院小儿外科收治的122例疑诊为HD患儿的病例资料.分析ARM诊断HD的敏感度、特异度、假阳性率、假阴性率、阳性预测值、阴性预测值、阳性似然比及阴性似然比;并以6月龄为度将病例分为大于6月龄组和小于6月龄组,采用卡方检验对两组间ARM及CE的阳性率进行相关性比较,P ＜0.05为差异有统计学意义;分析ARM对HD及HAD的鉴别特点. 结果 本组选取的所有病例均行CE、ARM及FB三项术前诊断性检查.ARM的大部分诊断指标明显优于CE,但低于两项 检查联合对HD的诊断价值.在小婴儿组（小于6月龄）中：CE的诊断价值普遍低于ARM.随着年龄的增长,CE的诊断率逐渐提高,但是仍然低于ARM.两组间CE阳性率为别为48.84％和68.35％（P=0.034）,而ARM阳性率为81.40％和83.54％（P=0.764）.HAD的ARM诊断特点：RIAR波存在,但是表现为W型、U型等异常波形. 结论 ARM对HD有肯定的诊断价值,且优于CE,两者联合,更有助于提高HD的诊断价值.ARM诊断新生儿、小婴儿HD同样较准确且稳定.HAD出现“W”或“U”为主的异型RAIR波,有助于其与HD相鉴别.     

Diagnosis and surgical treatment of isolated hypoganglionosis

Background

Some patients suspected with Hirschsprung’s disease (HD), however, were diagnosed as having isolated hypoganglionosis according to the updated pathohistologic methods. This study was undertaken to investigate the diagnostic methods and the therapeutic results of isolated hypoganglionosis in children.

Methods

A retrospective analysis was made on 17 patients with isolated hypoganglionosis (hypoganglionosis group) identified pathologically after operation. The data included clinical presentations, barium enema, anorectal manometry, histochemical staining for acetylcholinesterase (AChE) before operation, histological results after operation and follow-up outcomes. The data of hypoganglionosis with HD (HD group) were compared retrospectively.

Results

Common complaint of the patients with hypoganglionosis and HD was intractable constipation. Barium enema showed typical narrowing and distended segment of the colon in 9 patients in the hypoganglionosis group (9/16) and in 15 patients in the HD group (15/18). In the hypoganglionosis group, in 15 patients who underwent anorectal manometry only 5 showed absent rectal anal inhibitory reflex, significantly lower than the rate in the HD group (17/18) (P<0.05). From 16 patients in hypoganglionosis group, positive staining for AChE was noted in 3 patients (3/16, 18.8%), significantly lower than that in the HD group (16/18, 88.9%) (P<0.05). Thirteen patients in the hypoganglionosis group received subtotal colectomy, while only 5 patients needed subtotal colectomy in the HD group. In the hypoganglionosis group, except 2 patients who suffered from mild enterocolitis after operation and recovered after conservative therapy, all patients recovered uneventfully without wound dehiscence, intestinal fistula, fecal incontinence or constipation recurrence. In the HD group, one patient suffered from anastomotic leak and got secondary operation, one patient had anastomotic stricture at 1 year after operation and recovered by dilatation, and other three patients suffered from mild enterocolitis after operation and recovered after conservative therapy.

Conclusions

Hypoganglionosis is a common disease, and could be finally confirmed by full-thickness biopsies in different bowel segments. The resection range can be estimated according to barium enema and 24-hour delayed X-ray findings, by which the satisfactory result in short-term follow-up can be obtained.     

Spontaneous reduction of intussusception: clinical spectrum, management and outcome

Background. To analyze the spectrum of clinical features, management and outcome of children with documented spontaneous reduction of intussusception (SROI).¶Materials and methods. Review of records of 50 children (33 boys, ¶17 girls; age range 11 days–15 years; mean age 4 years) with documented SROI, in whom intussusception was initially diagnosed by sonography (US) in 44, air enema in 2, and computed tomography in 4, in the 6-year period 1992–1998.¶Results. Symptoms suggestive of intussusception were present in 21 (3 of whom had Henoch-Schönlein purpura and 4 had previous ileocolic intussusception reduced by air enema). Intussusception was an incidental finding in the other 29, in 28 of whom the finding was in the small bowel. Intussusception was limited to the small bowel in 43 and was ileocolic in 7. SROI was usually documented on US. Laparotomy performed in only 4 showed no evidence of intussusception or pathologic lead point. Outcome in all patients was favorable.¶Conclusions. SROI may present in symptomatic or asymptomatic children and occurs more commonly than previously reported. These intussusceptions are usually short-segment, small-bowel intussusceptions with no recognizable lead point. In asymptomatic patients, conservative observation is warranted. Intervention should be dictated by the clinical findings in symptomatic patients.     

Functional fecal soiling without constipation, organic cause or neuropsychiatric disorders?

BACKGROUND: The aetiology of fecal incontinence in children has traditionally been attributed to idiopathic constipation, structural defects or neuropsychiatric disorders. We describe a new subgroup of otherwise healthy children who have fecal soiling without any underlying cause for the incontinence. METHODS: The hospital records of children with fecal incontinence were screened to detect patients without any history, signs or symptoms of constipation or an organic, neurological or psychiatric cause for the incontinence. Anorectal manometry findings were compared with those of age-matched children with idiopathic constipation and soiling. RESULTS: Eight boys and 5 girls were identified. The median age at diagnosis was 7.9 years. Soiling had lasted median of 4.1 years, occurred at least every other day in 9, at least once a week in 2 and occasionally in 2 and required change of underwear or use of protective pads. Abdominal x-ray and barium enema showed normal findings. Sacral x-ray and/or MRI of the spinal cord showed normal bony spine and spinal cord. Five children had coexisting night and/or daytime wetting. Impaired rectal sensation was the only identifiable abnormality that was detected. The median volume required for the first sensation was 45 mL (range, 15-100 mL; normal, <15 mL). Anorectal manometry alone was unable to differentiate patients with functional fecal soiling from those with idiopathic constipation associated soiling. The median follow-up time after the diagnosis was 9.1 months. Treatment of fecal soiling consisted of education, dietary modification or stimulatory laxatives to establish regular toileting routines. Treatment improved fecal continence in 6 out of 8 cases with follow-up longer than 6 months. CONCLUSIONS: There is a small subgroup of children with fecal soiling who are otherwise healthy without constipation or any other underlying cause for the incontinence. These children seem to have isolated impairment of rectal sensation. In most, the prognosis is good with conservative treatment.     

Correlation of double-contrast high-density barium enema,colonoscopy, and histology in children with special attention to disparities

Colonoscopic and double-contrast high-density barium enema (DCBE) findings were correlated in 68 patients (39 boys and 29 girls) aged 6 months to 18 years (mean 11.6 years) evaluated over a 24-month period. There was excellent correlation in 53 patients (78.0%) and good correlation in another 3 (4.4%) who had identical diagnoses and only slightly differeing extent of disease reported. In 2 of these, DCBE showed more extensive disease, confirmed histologically in 1. Distal colitis seen on colonoscopy as reddening and neovascularity was missed on DCBE in 6 patients. Colonoscopy and DCBE failed to show a polyp in 1 patient each. One patient who had a normal DCBE and colonoscopy demonstrated a histological abnormality, and 1 patient with an abnormality on histology and DCBE was normal on colonoscopy. A disparity resulted from the time between procedures in 1 patient and observer error in another. This high correlation is far better than any previously reported in children, supporting the use of high-density barium sulfate and double-contrast barium enemas in pediatric patients.     

Diagnosis of Hirschsprung's disease

A prospective study of the accuracy of various diagnostic methods used in the detection of Hirschsprung's disease (syn. congenital intestinal aganglionosis, CIA) in 60 consecutive infants and children was done during the period 1972--76. Every patient underwent a barium enema, a rectal mucosal biopsy, which was prepared for both the demonstration of ganglia and for the assessment of acetylcholinesterase activity (ACE), and anal manometry was performed. In evaluating the clinical history, special emphasis was placed on signs of neonatal ileus. In the group of 10 patients with a definite diagnosis of CIA the results were almost uniform. In the 'non-CIA' group the search for ganglia in biopsy material proved non-confirmatory in nearly half of the cases studied due to the fact that specimens were taken too superficially. The findings pertaining to ACE, barium enema and the results of manometry were at variance or inconclusive of a final diagnosis in 10, 16 and 22% of the performed studies, respectively. The value given to neonatal history proved to be of the same order, i.e., 20% proved to be falsely positive.     

Suction biopsy in Hirschsprung's disease.

Seventy two children with symptoms and signs consistent with Hirschsprung''s disease had full thickness and suction rectal biopsies performed. Results were identical with both methods, except for one case of total aganglionosis of the colon. Full thickness biopsy no longer has a place as a screening method.     

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     

Preliminary evaluation of anorectal manometry in diagnosing Hirschsprung’s disease in neonates

Purpose  The aim of this paper was to assess the clinical value of anorectal manometry (ARMM) in the diagnosing of Hirschsprung’s disease (HD) in neonates. Methods  From January 2003 to June 2005, 75 patients in whom HD was clinically suspected were analyzed. ARMM was performed using a desk, high rate gastrointestinal dynamic detection system and the results were compared with barium enema and rectal suction biopsy. Results  Based on rectal suction biopsies in 52 of 75 patients, the positive, false positive, negative, and false negative rates of ARMM in the diagnosis of HD in neonates were found to be 92.3, 1.9, 1.9, and 3.8%, respectively. Forty-three of 75 patients were diagnosed with HD by both ARMM and barium enema and the diagnoses were validated by pathologic results. The diagnosis of HD was excluded in 18 patients in whom HD was clinically suspected, but in whom the results of ARMM and barium enema were normal. Twelve patients who had ARMM results consistent with HD and a negative barium enema, had serial ARMM performed; a rectoanal inhibitory reflex (RAIR) was elicited in four patients, thereby excluding HD and the remaining eight patients were diagnosed with HD by review of barium enema and pathologic results. One of two patients with a positive barium enema for HD, but an ARMM showing the presence of RAIR was excluded by pathologic results and the other patient was lost to follow-up. The diagnostic accuracies of ARMM and barium enema for HD in neonates were 93.3 and 86.7%, respectively. There was no difference in rectal resting pressure and anal rhythmic wave frequency between neonates with HD and healthy neonates, but neonates with HD had higher anal sphincter pressures than healthy neonates (P = 0.0074). Conclusions  ARMM is a simple, safe, and non-invasive method with high specificity for the diagnosis of HD in neonates.     

Congenital central hypoventilation syndrome and Hirschsprung's disease

Five cases of the Hirschsprung''s disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung''s disease. While approximately 1.5% of Hirschsprung''s disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung''s disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.

     

Allergic proctitis and abdominal distention mimicking Hirschsprung's disease in infants

AIM: To determine the incidence and clinical aspects of allergic proctitis (AP) in infants with symptoms that mimic Hirschsprung's disease (HD). METHODS: One hundred and five patients less than 6 months of age, who underwent barium enema, anorectal manometry and rectal suction biopsy due to suspicion of HD, were enrolled. Comparison of the patient characteristics associated with each disease was based on the results of the triple testing. The sensitivity and specificity of the three tests, for the diagnosis of HD, were evaluated. RESULTS: The mean age of enrolled patients was 2.1+/-0.9 months. Based on the three tests, 39 patients (37.1%) were diagnosed with HD, seven patients (6.7%) with AP, and 53 (50.5%) had normal results. Of the 54 patients with transitional zone and a reversed rectosigmoid index on the barium enema, four (7.4%) were patients with AP. The mean age of the AP patients (3.1+/-1.5 months old) was older than the HD children (1.4+/-0.9 months old). The sensitivity of the three tests for HD was 97.4%, 87.2% and 92.3% and the specificity was: 74.2%, 78.8% and 100%, respectively. CONCLUSIONS: In the infants with severe abdominal distention, the incidence of AP mimicking HD was relatively high. Therefore, consideration of AP should be part of the differential diagnosis in infants with severe abdominal distention or findings that mimic HD. For differentiation of these disorders, a rectal suction biopsy is very useful.