Rectal suction biopsy in the workup of childhood chronic constipation: indications and diagnostic value (original) (raw)
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Egyptian Pediatric Association Gazette, 2015
Introduction: Hirschsprung's disease (HD) should be considered in children with neonatal-onset constipation. Clinical differentiation between HD and idiopathic constipation (IC) is difficult in late presenting infants. Consequently, paediatric surgical centres receive numerous referrals for rectal biopsies, requiring admissions and GA, particularly if suction biopsy is unavailable, and in older children. Methods: Forty-two cases referred for rectal biopsy, were studied for clinical features, single contrast enema, as compared to rectal biopsy findings, to determine the statistical reliability towards achieving a diagnosis. Results: The mean age at presentation was 106 days in HD patients, and 172 days in IC. Significant neonatal clinical features were present in 54%. Delayed passage of meconium was present in 86% of HD, compared to 14% of IC (p = 0.001). Rectal examination found a tight segment in 90% of HD, and a distended anorectum in 64% of IC (p = 0.005). The sensitivity of contrast enema was 86%, and the specificity was 90%. The histological analysis of strip rectal biopsy was sensitive in 93%, and inconclusive in 7%. Conclusion: This audit generated a checklist of 6 clinical and 3 radiological criteria, to differentiate HD from ID, including clinically (1) neonatal onset; (2) male sex; (3) congenital anomalies, dysmorphic features and/or family history of HD; (4) delayed meconium passage; (5) enterocolitis or significant bowel obstruction/impaction; (6) tight segment on rectal examination; and radiologically (7) funnelled transition zone or a reversed rectosigmoid index (<1); (8) delayed evacuation of contrast after 24 h; and (9) absent distension of the anorectum with contrast, absent mucosal irregularities, and absent sigmoid looping. ª 2015 Production and hosting by Elsevier B.V. on behalf of The Egyptian Pediatric Association. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Journal of Pediatric Surgery, 2006
Introduction: Since Noblett (J Pediatr Surg 1969;4:406-409) described her innovative tool, rectal suction biopsy (RSB) has become the gold standard in the diagnosis of Hirschsprung's disease and other intestinal dysganglionoses. Many different instruments have been developed during the last 30 years, but none of them proved to be free of disadvantages. In 2000, at Gaslini Research Institute, we developed an improved tool to perform RSBs called Solo-RBT (SAMO Biomedica, Bologna, Italy), which has some advantages: (1) the procedure is easily performed by one operator alone; (2) the instrument can be adjusted for each patient according to age and weight; and (3) the instrument can be completely disassembled for decontamination and heat sterilization. This study describes our experience with Solo-RBT in the diagnosis of intestinal dysganglionoses. Materials and Methods: Between February 2000 and January 2005, we performed RSBs on 389 patients. Detailed information regarding patients, technique, histochemical staining, diagnostic criteria, complications, and diagnoses are provided. Moreover, patients were divided in 3 age-related groups to compare results. Results: One thousand twelve biopsies were performed on 389 patients. Age range at biopsy was 4 days to 66 years. Median age was 2.4 years. Each patient underwent a mean of 2.6 biopsies. Fifty-nine patients experienced complications, including 2 persistent rectal bleedings (0.5%) in patients younger than 1 year and 57 inadequate biopsies (14.5%). Neither perforation nor pelvic sepsis occurred. Sixty-five cases of Hirschsprung's disease and 58 of intestinal neuronal dysplasia have been diagnosed with Solo-RBT. Conclusions: The very low incidence of major complications proved that Solo-RBT is safe and effective. The wide age range at biopsy confirms the great versatility of this tool. Our study demonstrated that age does not represent a risk factor for inadequacy of the specimen; however, it showed that patients younger than 1 year have a higher risk of major complications. Therefore, although Solo-RBT increases safety and reliability of RSBs, great attention should be paid when this procedure is performed in newborns and infants. D
A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders
Journal of Pediatric Gastroenterology and Nutrition, 2013
Objective: Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field. Results: Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill-defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age-related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance. Conclusions: The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.
Rome IV Diagnostic Questionnaires and Tables for Investigators and Clinicians
Gastroenterology, 2016
The Rome IV Diagnostic Questionnaires were developed to screen for functional gastrointestinal disorders (FGIDs), serve as inclusion criteria in clinical trials, and support epidemiological surveys. Separate questionnaires were developed for adults, children/adolescents, and infants/toddlers. For the adult questionnaire, we first surveyed 1,162 adults without gastrointestinal disorders, and recommended the 90(th) percentile symptom frequency as the threshold for defining what is abnormal. Diagnostic questions were formulated and verified with clinical experts using a recursive process. The diagnostic sensitivity of the questionnaire was tested in 843 patients from 9 gastroenterology clinics, with a focus on clinical diagnoses of irritable bowel syndrome (IBS), functional constipation (FC), and functional dyspepsia (FD). Sensitivity was 62.7% for IBS, 54.7% for FD, and 32.2% for FC. Specificity, assessed in a population sample of 5,931 adults, was 97.1% for IBS, 93.3% for FD, and 93....
Pediatric Abdominal Radiograph Use, Constipation, and Significant Misdiagnoses
The Journal of Pediatrics, 2014
Objective To determine the proportion of children diagnosed with constipation assigned a significant alternative diagnosis within 7 days (misdiagnosis), if there is an association between abdominal radiograph (AXR) performance and misdiagnosis, and features that might identify children with misdiagnoses. Study design We conducted a retrospective cohort study of consecutive children <18 years who presented to a pediatric emergency department in Toronto, between 2008 and 2010. Children assigned an International Statistical Classification of Diseases and Related Health Problems 10th Revision code consistent with constipation were eligible. Misdiagnosis was defined as an alternative diagnosis during the subsequent 7 days that resulted in hospitalization or an outpatient procedure that included a surgical or radiologic intervention. Constipation severity was classified employing text word categorization and the Leech score. Results 3685 eligible visits were identified. Mean age was 6.6 AE 4.4 years. AXR was performed in 46% (1693/ 3685). Twenty misdiagnoses (0.5%; 95% CI 0.4, 0.8) were identified (appendicitis [7%], intussusception [2%, bowel obstruction [2%], other [9%]). AXR was performed more frequently in misdiagnosed children (75% vs 46%; P = .01). These children more often had abdominal pain (70% vs 49%; P = .04) and tenderness (60% vs 32%; P =.01). Children in both groups had similar amounts of stool on AXR (P = .38) and mean Leech scores (misdiagnosed = 7.9 AE 3.4; not misdiagnosed = 7.7 AE 2.9; P = .85). Conclusions Misdiagnoses in children with constipation are more frequent in those in whom an AXR was performed and those with abdominal pain and tenderness. The performance of an AXR may indicate diagnostic uncertainty; in such cases, the presence of stool on AXR does not rule out an alternative diagnosis.
Journal of Pediatric Surgery, 2005
Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet worldwide accepted and diagnosed. This report describes the areas of agreement and disagreement regarding definition, diagnosis, and management of IDs as discussed at the workshop of the fourth International Meeting on b Hirschsprung's disease and related neurochristopathies.Q The gold standards in the preoperative diagnosis of IDs are described, enlighting the importance of rectal suction biopsy in the diagnostic workup. The most important diagnostic features of HD are the combination of hypertrophic nerve trunks and aganglionosis in adequate specimens. Acetylcholinesterase staining is the best diagnostic technique to demonstrate hypertrophic nerve trunks in lamina propia mucosae, but many pathologist from different centers still use H&E staining effectively. Moreover, the importance of an adequate intraoperative pathological evaluation of the extent of IDs to avoid postoperative complications is stressed. Although it is not clear whether IND is a separate entity or some sort of secondary acquired condition, it is concluded that both IND and IASNA do exist. Other interesting conclusions are provided as well as detailed results of the discussion. Further investigation is 0022-3468/$ -see front matter D
Pediatric and Developmental Pathology, 2012
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 un...
Journal of pediatric gastroenterology and nutrition, 2015
This study aimed to examine the long-term clinical outcomes of children with severe constipation, as defined by need for rectal biopsy (RB), and determine which baseline characteristics were predictors of successful outcome. Children with severe constipation who underwent RB for evaluation of Hirschsprung's Disease at a tertiary medical center were eligible. A cohort of children with constipation without a history of RB served as controls (matched 2:1 by sex and age). Retrospective chart review of clinic visits was performed at baseline, 3, 6, 12, 18, and 24 months. Successful clinical outcomes were defined as ≥ 3 bowel movements weekly for ≥ 4 weeks, with ≤2 fecal incontinence episodes monthly, irrespective of laxative use RESULTS:: 175 RB children (90 males; mean age: 6.7 years) were matched to 350 controls.Mean duration of constipation symptoms before intake in the RB group was significantly longer compared to controls (3.7 vs. 0.4 years, p < 0.001). By 24 months, the cumu...