Congenital segmental dilatation of the colon in a newborn: a radiologic perspective of an unusual entity.

A newborn with congenital segmental dilatation of the intestine affecting the colon is presented. This rare condition, unrelated to Hirschsprung's disease, may affect any portion of the bowel and is characterized by focal dilatation of a segment of bowel flanked by normal proximal and distal bowel. While reported in the surgical literature, congenital segmental dilatation of the intestine has not been reported in the pediatric radiology literature even though pediatric radiologists may be the first to encounter imaging suggesting the diagnosis. We therefore present the characteristic imaging findings, including abdominal radiographs and images from a contrast enema, and discuss the clinical presentation, pathology findings, associations, treatment, and prognosis of congenital segmental dilatation of the intestine to increase awareness of this unusual diagnosis.

Study on the application of optical coherence microscopy in Hirschsprung's disease.

To explore the clinical application value of optical coherence microscopy (OCM) in Hirschsprung's disease. 109 HSCR patients were recuited in a Chinese hospital from January 2018 to July 2021. All the recruited patients underwent barium enema angiography preoperatively and the resected diseased intestinal tubes were evaluated intraoperatively. The OCM and the histopathological examination were performed successively on the surgical specimens, and the OCM images were compared with the relevant tissue sections to characterize different lesions. 10 non-HSCR fetal colorectal tissues at the same period were retained for OCM, the characteristics of which with and without HSCR under OCM imaging were analyzed. In the OCM images of in vitro tissue, it can be clearly observed that the scattering degree of HSCR narrow segment mucosal is high, glands and crypt structures are reduced or even atrophy, and the scattering degree of submucosal and intermuscular is low; In the dilated segment, the low scattering and high scattering are complex, and the muscle layer is obviously hypertrophy and structural disorder. Compared with the pathological findings, the OCM sensitivity, Kappa value, and AUC area reached 92.66%, 0.63, and 0.91, respectively. OCM can quickly and clearly display the structure of all layers of colorectal tissue, which is highly consistent with the corresponding histopathological examination results and has high sensitivity. which will provide a more reliable basis for OCM diagnosis of early HSCR, targeted biopsy and location of operative treatment, and has a certain potential for clinical application.

Determining the Correct Resection Level in Patients with Hirschsprung Disease Using Contrast Enema and Full Thickness Biopsies: Can the Diagnostic Accuracy be Improved by Examining Submucosal Nerve Fiber Thickness?

BACKGROUND: Intraoperative resection level in patients with Hirschsprung disease (HD) is determined by contrast enema, surgeon's intraoperative judgement and full thickness biopsy (FTB) identifying ganglia. This study aims to evaluate diagnostic accuracy of contrast enema and FTB in determination of resection level and whether this can be improved by measuring submucosal nerve fiber diameter. METHODS: We retrospectively analyzed contrast enema and intraoperative FTBs obtained in our center, determining diagnostic accuracy for level of resection. Gold standard was pathological examination of resection specimen. Secondly, we matched transition zone pull-through (TZPT) patients with non-TZPT patients, based on age and length of resected bowel, to blindly compare nerve fibers diameters between two groups using group comparison. RESULTS: From 2000-2021, 209 patients underwent HD surgery of whom 180 patients (138 males; median age at surgery: 13 weeks) with 18 TZPTs (10%) were included. Positive predictive value of contrast enema was 65.1%. No caliber change was found in patients with total colon aganglionosis (TCA). Negative predictive value of surgeon's intraoperative judgement and FTB in determining resection level was 79.0% and 90.0% (91.2% single-stage, 84.4% two-stage surgery) respectively. Mean nerve fiber diameter in TZPT was 25.01 µm (SD= 5.63) and in non-TZPT 24.35 µm (SD= 6.75) (p = 0.813). CONCLUSION: Determination of resection level with combination of contrast enema, surgeon's intraoperative judgement and FTB results in sufficient diagnostic accuracy in patients with HD. If no caliber change is seen with contrast enema, TCA should be considered. Resection level or transition zone cannot be determined by assessment of submucosal nerve fiber diameter in FTB. TYPE OF STUDY: clinical research paper.

Diagnosis of Hirschsprung disease by hydrocolonic sonography in children.

OBJECTIVES: To compare hydrocolonic sonography with histopathology for diagnosing children with symptoms highly suggestive of Hirschsprung disease (HD). METHODS: In this prospective study, patients presenting refractory constipation highly suggestive of HD underwent hydrocolonic sonography with retrograde infusion of saline into the colon. The dilated segments, narrowed segments, luminal diameter ratio, transition zone (TZ), thickening, and blood perfusion of the upstream bowel were evaluated. The sensitivity and specificity of combined and single parameters were determined in comparison with biopsy. RESULTS: One hundred and three children were included in this study; 49 were confirmed to have HD. The luminal diameter ratio showed superiority over other parameters. An area under the curve (AUC) of 0.969 (95% confidence interval [CI]: 0.936-1.000) and a cutoff value of 1.51 were established by receiver operating characteristic (ROC) curve analysis of the luminal diameter ratio (sensitivity: 89.8%; specificity: 96.3%). By combining the luminal diameter ratio as the major criterion with two minor criteria, hydrocolonic sonography showed the same sensitivity (91.8%) and better specificity (96.3% vs 87%) than contrast enema, but this difference was not statistically significant (p = 0.063). Consistency analysis showed a kappa value of 0.825 (p < 0.001), indicating excellent agreement between hydrocolonic sonography and contrast enema. CONCLUSIONS: Hydrocolonic sonography is a valuable diagnostic tool with both high sensitivity and specificity for HD diagnosis, allowing morphological and vascular assessments of the colon, and correlates well with contrast enema. In the appropriate setting, hydrocolonic sonography may be an alternative screening method for HD in a large group of children with constipation. Key Points • Hydrocolonic sonography is a simple, well-tolerated diagnostic tool with both high sensitivity and specificity for HD diagnosis. • Hydrocolonic sonography allows morphological and vascular assessments of the colon, and correlates well with contrast enema. • Hydrocolonic sonography is a possible alternative modality for paediatric patients highly suggestive of HD.

Machine learning-based quantitative analysis of barium enema and clinical features for early diagnosis of short-segment Hirschsprung disease in neonate.

OBJECTIVE: To develop a mathematical model based on a combination of clinical and radiologic features (barium enema) for early diagnosis of short-segment Hirschsprung disease (SHSCR) in neonate. METHODS: The analysis included 54 neonates with biopsy-confirmed SHSCR (the cases) and 59 neonates undergoing barium enema for abdominal symptoms but no Hirschsprung disease (the control). Colon shape features extracted from barium enema images and clinical features were used to develop diagnostic models using support vector machine (SVM) and L2-regularized logistic regression (LR). The training cohort included 32 cases and 37 controls; testing cohort consisted 22 cases and 22 controls. Results were compared to interpretation by 2 radiologists. RESULTS: In the analysis by radiologists, 87 out of 113 cases were correctly classified. Six SHSCR cases were mis-classified into the non-HSCR group. In the remaining 20 cases, radiologists were unable to make a decision. Both the SVM and LR classifiers contained five clinical features and four shape features. The performance of the two classifiers was similar. The best model had 86.36% accuracy, 81.82% sensitivity, and 90.91% specificity. The AUC was 0.9132 for the best-performing SVM classifier and 0.9318 for the best-performing LR classifier. CONCLUSION: A combination of clinical features and colon shape features extracted from barium enemas can be used to improve early diagnosis of SHSCR in neonate.

Barium enema findings in total colonic aganglionosis: a single-center, retrospective study.

BACKGROUND: Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative barium enema in patients with total colonic aganglionosis. METHODS: Forty-four patients [41 (3-659) days] with total colonic aganglionosis, including 17 neonatal patients, who received preoperative barium enema at Beijing Children's Hospital, from January 2007 to December 2019 were included. All radiographs were retrospectively restudied by 2 pediatric radiologists to ascertain radiographic signs including rectosigmoid index, transition zone, irregular contraction, gas-filled small bowel, microcolon, question-mark-shaped colon and ileocecal valve reflux. Kappa test was performed to assess the accuracy and consistency of the radiographic signs. RESULTS: The 2 radiologists showed slight agreement for gas-filled small bowel, microcolon and rectosigmoid index, fair agreement for transition zone and irregular contraction, and moderate agreement for question-mark-shaped colon and ileocecal valve reflux (Kappa values, 0.043, 0.075, 0.103, 0.244, 0.397, 0.458 and 0.545, respectively). In neonatal patients, the 2 radiologists showed moderate agreement for ileocecal valve reflux and substantial agreement for question-mark-shaped colon (Kappa values, 0.469 and 0.667, respectively). In non-neonatal patients, the 2 radiologists showed substantial agreement for ileocecal valve reflux (Kappa value, 0.628). In 36 patients with total colonic aganglionosis extending to the ileum, the accuracies of question-mark-shaped colon, ileocecal valve reflux and the combination of both were 47%, 53%, and 75%, respectively, in one radiologist and 53%, 50% and 72%, respectively, in the other radiologist. CONCLUSIONS: Ileocecal valve reflux is a relatively reliable radiographic sign for diagnosing total colonic aganglionosis and could improve the diagnostic accuracy upon combination with question-mark-shaped colon.

Comparison of Barium Enema and frozen section results in the diagnosis of Hirschsprung's Disease in a tertiary care hospital at Aceh, Indonesia.

INTRODUCTION: Hirschsprung's Disease (HD) also called congenital aganglionic megacolon is a disorder caused by undeveloped distal to proximal intestinal nerve ganglion cells. Diagnosis includes determining the aganglionic segment through barium enema radiology examination and histopathology of frozen section with permanent section as gold standard. Determining the diagnostic value of this modality is important for operative management decision. MATERIALS AND METHODS: The study was a retrospective, cross-sectional study with diagnostic test design. Patient data were obtained in the form of clinical symptoms, barium enema, and frozen section expertise were assessed for the suitability of the diagnostic value by referring to the permanent section as the gold standard. RESULT: Thirty-four patient data were obtained. The sensitivity, specificity, and accuracy of barium enemas were 95%, 69.2%, and 82%, respectively. The values of sensitivity, specificity, and accuracy of frozen section were 95%, 92.8%, and 88%, respectively. The Cohen-Kappa statistic value was 0.62 (good agreement). CONCLUSION: Accuracy of FS is better than barium enema in diagnosing HD. In health care center with limitation of histopathological facility, BE could be used as the alternative procedure as interrater comparisons showed good agreement. Therefore, either frozen section or barium enema can be carried out in common or in separate term.

Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease.

BACKGROUND: Various patterns of colonic mucosal irregularity have been recorded on contrast enema, each with individually very low sensitivity, but high specificity. OBJECTIVE: To assess the accuracy of the radiologic features of Hirschsprung disease utilising a unifying stratification of any form of colonic mucosal irregularity on contrast enema. MATERIALS AND METHODS: We conducted a retrospective study of children with suspected Hirschsprung disease managed at a tertiary South African hospital from January 2009 through April 2015. Three observers independently reviewed abdominal radiographs and contrast enemas. The enema analysis included a unifying category of any form of colonic mucosal irregularity. Radiologic features were compared with rectal biopsy results. We used descriptive statistics and the Fisher exact test to compare the radiologic features of children with and without Hirschsprung disease. RESULTS: Ninety-two children with median age of 37 days (range 3 days to 11 years) were included; 50 had biopsy-proven Hirschsprung disease. On enema, any mucosal irregularity, a transition zone and recto-sigmoid ratio inversion were associated with Hirschsprung disease (all P<0.01). Mucosal irregularity showed 96% sensitivity (95% confidence interval [CI] 86.3-99.5) and 71.4% specificity (CI 55.4-84.3); a transition zone showed 86% sensitivity (CI 73.3-94.2) and 90.5% specificity (CI 77.4-97.3); and recto-sigmoid ratio inversion showed 78% sensitivity (CI 64.0-88.5) and 83.3% specificity (CI 68.3-93.0). CONCLUSION: Colonic mucosal irregularity on contrast enema has high sensitivity and moderate specificity for Hirschsprung disease.

Barium Enema Revisited in the Workup for the Diagnosis of Hirschsprung's Disease.

OBJECTIVE: To analyse the diagnostic capacity of barium enema (BE) in the diagnostic investigation for Hirschsprung's disease (HD) was analyzed for transition zone (TZ) identification and rectosigmoid index (RSI) ≤1.0 determination. PATIENTS AND METHODS: BE images were analyzed retrospectively by 2 examiners and the results were compared with the histopathology of rectal biopsies. RESULTS: TZ identification and RSI ≤1.0 were assessed separately and combined in 43 patients. Twelve (27.9%) patients had the diagnosis of HD based on rectal biopsies. TZ identification presented better diagnostic capacity for the 2 examiners than RSI ≤1.0. However, interexaminer agreement was higher for RSI ≤1.0 than for TZ identification. The combination of TZ identification and RSI ≤1.0 increased the sensitivity (83.3%-92.3%) and the negative predictive value (90.4%-92.3%). CONCLUSION: Therefore, the high diagnostic sensitivity of TZ identification combined to RSI ≤1.0 reinforces the usefulness of these BE parameters in the screening for Hirschsprung's disease.

Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease.

OBJECTIVE: Short-segment Hirschsprung disease (HSCR) is the predominant type of HSCR that affects approximately 75% of patients. Whether single-stage endorectal pull-through (ERPT) surgery is appropriate for neonatal patients with HSCR has not been definitively determined. This retrospective cohort study concerning infants with short-segment HSCR investigated the optimal age for single-stage ERPT surgery, regardless of the operative approach. METHODS: The 198 patients were stratified by operative age ≤ 3 or > 3 months (groups A or B, respectively, n = 62 and 136, respectively). Diagnoses of short-segment HSCR were conducted by preoperative contrast enema and rectal suction biopsy with acetylcholinesterase immunohistochemical staining. The perioperative clinical course for all patients was reviewed and the accuracy rate of the preoperative diagnoses and postoperative short- and midterm outcomes were assessed. RESULTS: The rates of diagnostic accuracy, according to the results of the preoperative contrast enema or rectal suction biopsy, were lower in group A (67.2 and 93.5%, respectively) than in group B (81.4 and 94.9%, respectively). In groups A and B, 49 (79.1%) and 108 (79.4%) infants, respectively, completed follow-up examinations. The short-term outcomes were postoperative HSCR-associated enterocolitis, adhesive bowel obstruction, anastomosis leakage, and anal stenosis during the first 12 months after surgery. The midterm outcomes were incontinence and constipation at ~24 months after surgery. Compared with group B, group A experienced more incidences of anastomotic leakage in the short-term and more soiling in the midterm. In groups A and B, the rates of constipation recurrence were nil and 1.9%, respectively. CONCLUSION: Infants with HSCR ≤3 months old at the time of single-stage ERPT surgery showed lower rates of accurate and conclusive diagnostic results and poorer postoperative outcomes. Waiting to perform this surgery until infants are older might be more beneficial.

Colonic diverticulosis in an infant: A clue to total colonic Hirschsprung disease.

Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD. This case highlights the association of the unusual finding of colonic diverticula with total colonic HD in infants.

Radiologist performance in the interpretation of contrast enemas performed for Hirschsprung's disease in children >1 year of age.

AIM: To evaluate the diagnostic performance of contrast enemas (CEs) for the diagnosis of Hirschsprung's disease (HD). METHODS AND MATERIALS: CE studies performed as part of an HD workup in patients 1-18 years of age over a 10-year period were identified. All abnormal CE studies and an equal number of age-matched controls were included in the final study group. Two radiologists independently and blindly reviewed all CE studies for quality (scale of 0-3) and the presence of large colon calibre, colon redundancy, transition zone, rectosigmoid ratio, and abnormal contractions. Readers also determined whether a rectal biopsy would be recommended to confirm an HD diagnosis. Discrepancies were resolved in consensus. Findings were correlated with surgery and biopsy data. RESULTS: Out of 834 CE studies, 38 abnormal CE studies were identified (mean age 5.9 years) and included 38 matched controls. Seventeen of 76 patients were recommended for rectal biopsy, of which five were confirmed to have HD. Twelve of 70 (17.1%) were false positives, and were clinically confirmed not to have HD. The proportion of HD in the present population was 6/834 (0.72%). Of the 17 recommended for biopsy, CE studies showed 17/17 (100%) with an abnormal rectosigmoid ratio, 16/17 (94.1%) with redundant colon, and 15/17 (88%) with large colon. Of patients not recommended for biopsy, one was diagnosed with HD, (false negative, 16.7%). The diagnostic performance of CE was 83.3% sensitivity and 82.9% specificity. CONCLUSION: Few children >1 year of age were found to have HD and the diagnostic performance of the CE is moderately high. The CE examination is a valuable non-invasive imaging study to help exclude older children who may not have HD, thereby obviating the need for invasive rectal biopsy and surgery.

Diagnostic value of the preoperatively detected radiological transition zone in Hirschsprung's disease.

BACKGROUND AND OBJECTIVE: The cardinal diagnostic sign of congenital aganglionic megacolon, or Hirschsprung's disease (HD), is an aganglionic segment of the distal colon or rectum. To determine the surgical planning of a radiological transition zone (TZ) in HD, this study investigated the association between a radiological TZ and the bowel resection length. METHODS: A prospective observational study was conducted in children (n = 192) with suspected HD determined by radiological TZ on contrast barium enema, and who underwent pull-through operations. The bowel resection length was ≥10 cm above the proximal radiological TZ levels and confirmed by intraoperative frozen sections. In the contrast enema, the presence and level of a radiological TZ were recorded. Correlation of the TZ features with ganglion cells assessed by immunostaining of neuronal nuclei (NeuN) and the odds ratio were calculated. RESULTS: The sensitivity and specificity for diagnosing HD by the presence of a radiological TZ were 86.9 and 92.1%, respectively; Youden's index was 79.0%. The positive and negative predictive values were 91.7 and 87.6%. The kappa value indicating an association between TZ and HD was 0.776 (P < 0.05). The correlation rate between a radiological TZ and the pathological results was 88.5% in the rectosigmoid colon and 44.4% in the descending colon, and was higher in children older than 3 months (85.3%) than in infants (69.0%). CONCLUSION: A preoperatively determined radiological TZ has potential value to identify the length of resected bowel in patients with HD, and it also has a high predictive value for diagnosis of HD.

DIAGNOSTIC ACCURACY OF BARIUM ENEMA FINDINGS IN HIRSCHSPRUNG'S DISEASE.

Background: Hirschsprung's disease is the most common cause of pediatric intestinal obstruction. Contrast enema is used for evaluation of the patients with its diagnosis. Aim: To evaluate sensitivity, specificity, positive predictive value, and negative predictive value of radiologic findings for diagnosis of Hirschsprung in patients underwent barium enema. Methods: This cross sectional study was carried out in Imam Khomeini Hospital for one year starting from 2012, April. Sixty patients were enrolled. Inclusion criteria were: neonates with failure to pass meconium, abdominal distention, and refractory constipation who failed to respond with medical treatment. Transitional zone, delay in barium evacuation after 24 h, rectosigmoid index (maximum with of the rectum divided by maximum with of the sigmoid; abnormal if <1), and irregularity of mucosa (jejunization) were evaluated in barium enema. Biopsy was obtained at three locations apart above dentate line. PPV, NPV, specificity , and sensitivity was calculated for each finding. Results: Mean age of the cases with Hirschsprung's disease and without was 17.90±18.29 months and 17.8±18.34 months respectively (p=0.983). It was confirmed in 30 (M=20, F=10) of cases. Failure to pass meconium was found in 21(70%) cases. Sensitivity, specificity, PPV, and NPV were 90%, 80%, 81.8% and 88.8% respectively for transitional zone in barium enema. Sensitivity, specificity, PPV, and NPV were 76.7%, 83.3%, 78.1% and 82.1% respectively for rectosigmoid index .Sensitivity, specificity, PPV, and NPV were 46.7%, 100%, 100% and 65.2% respectively for irregular contraction detected in barium enema. Sensitivity, specificity, PPV, and NPV were 23.3%, 100%, 100% and 56.6% respectively for mucosal irregularity in barium enema. Conclusion: The most sensitive finding was transitional zone. The most specific findings were irregular contraction, mucosal irregularity, and followed by cobblestone appearance.

Racional: A doença de Hirschsprung é a causa mais comum de obstrução intestinal pediátrica. Enema baritado é usado para a avaliação dos pacientes com o diagnóstico . Objetivo: Avaliar a sensibilidade, especificidade, valor preditivo positivo e valor preditivo negativo de achados radiológicos para diagnóstico de Hirschsprung em pacientes submetidos ao enema opaco. Métodos: Este estudo transversal foi realizado em Imam Khomeini Hospital por um ano a partir de abril de 2012. Sessenta pacientes foram incluídos. Os critérios de inclusão foram: recém-nascidos com insuficiência de passagem de mecônio, distensão abdominal, e constipação refratária sem resposta ao tratamento médico. Foram avaliadas no enema zona de transição, atraso na evacuação de bário após 24 h, índice retossigmoide (máximo do diâmetro do reto dividido pelo máximo do sigmóide; anormal se <1), e as irregularidades da mucosa (jejunização). Biópsia foi obtida em três localizações acima da linha dentada. VPP, VPN, especificidade e sensibilidade foram calculados para cada achado. Resultados: A idade média dos casos com a doença de Hirschsprung e sem foi 17,90±18,29 meses e 17,8±18,34 meses, respectivamente (p=0,983). Confirmou-se em 30 (M=20, F=10) dos casos. Falha no mecônio foi encontrada em 21 (70%) casos. Sensibilidade, especificidade, VPP e VPN foram de 90%, 80%, 81,8% e 88,8%, respectivamente, para a zona de transição no enema. Sensibilidade, especificidade, VPP e VPN foram 76,7%, 83,3%, 78,1% e 82,1%, respectivamente para o índice de retossigmoide. Sensitividade, especificidade, VPP e VPN foram 46,7%, 100%, 100% e 65,2%, respectivamente, para contração irregular detectada no enema baritado. Sensibilidade, especificidade, VPP e VPN foram de 23,3%, 100%, 100% e 56,6%, respectivamente, para a irregularidade da mucosa. Conclusão: O achado mais sensível foi zona de transição. Os achados mais específicos foram contração irregular, irregularidade da mucosa, e seguido por aparecimento de mucosa em forma de paralelepípedos.

Diagnostic accuracy of barium enema findings in hirschsprung's disease / Acurácia do diagnóstico de achados do enema opaco na doença de hirschsprung

ABSTRACT Background: Hirschsprung's disease is the most common cause of pediatric intestinal obstruction. Contrast enema is used for evaluation of the patients with its diagnosis. Aim: To evaluate sensitivity, specificity, positive predictive value, and negative predictive value of radiologic findings for diagnosis of Hirschsprung in patients underwent barium enema. Methods: This cross sectional study was carried out in Imam Khomeini Hospital for one year starting from 2012, April. Sixty patients were enrolled. Inclusion criteria were: neonates with failure to pass meconium, abdominal distention, and refractory constipation who failed to respond with medical treatment. Transitional zone, delay in barium evacuation after 24 h, rectosigmoid index (maximum with of the rectum divided by maximum with of the sigmoid; abnormal if <1), and irregularity of mucosa (jejunization) were evaluated in barium enema. Biopsy was obtained at three locations apart above dentate line. PPV, NPV, specificity , and sensitivity was calculated for each finding. Results: Mean age of the cases with Hirschsprung's disease and without was 17.90±18.29 months and 17.8±18.34 months respectively (p=0.983). It was confirmed in 30 (M=20, F=10) of cases. Failure to pass meconium was found in 21(70%) cases. Sensitivity, specificity, PPV, and NPV were 90%, 80%, 81.8% and 88.8% respectively for transitional zone in barium enema. Sensitivity, specificity, PPV, and NPV were 76.7%, 83.3%, 78.1% and 82.1% respectively for rectosigmoid index .Sensitivity, specificity, PPV, and NPV were 46.7%, 100%, 100% and 65.2% respectively for irregular contraction detected in barium enema. Sensitivity, specificity, PPV, and NPV were 23.3%, 100%, 100% and 56.6% respectively for mucosal irregularity in barium enema. Conclusion: The most sensitive finding was transitional zone. The most specific findings were irregular contraction, mucosal irregularity, and followed by cobblestone appearance.

RESUMO Racional: A doença de Hirschsprung é a causa mais comum de obstrução intestinal pediátrica. Enema baritado é usado para a avaliação dos pacientes com o diagnóstico . Objetivo: Avaliar a sensibilidade, especificidade, valor preditivo positivo e valor preditivo negativo de achados radiológicos para diagnóstico de Hirschsprung em pacientes submetidos ao enema opaco. Métodos: Este estudo transversal foi realizado em Imam Khomeini Hospital por um ano a partir de abril de 2012. Sessenta pacientes foram incluídos. Os critérios de inclusão foram: recém-nascidos com insuficiência de passagem de mecônio, distensão abdominal, e constipação refratária sem resposta ao tratamento médico. Foram avaliadas no enema zona de transição, atraso na evacuação de bário após 24 h, índice retossigmoide (máximo do diâmetro do reto dividido pelo máximo do sigmóide; anormal se <1), e as irregularidades da mucosa (jejunização). Biópsia foi obtida em três localizações acima da linha dentada. VPP, VPN, especificidade e sensibilidade foram calculados para cada achado. Resultados: A idade média dos casos com a doença de Hirschsprung e sem foi 17,90±18,29 meses e 17,8±18,34 meses, respectivamente (p=0,983). Confirmou-se em 30 (M=20, F=10) dos casos. Falha no mecônio foi encontrada em 21 (70%) casos. Sensibilidade, especificidade, VPP e VPN foram de 90%, 80%, 81,8% e 88,8%, respectivamente, para a zona de transição no enema. Sensibilidade, especificidade, VPP e VPN foram 76,7%, 83,3%, 78,1% e 82,1%, respectivamente para o índice de retossigmoide. Sensitividade, especificidade, VPP e VPN foram 46,7%, 100%, 100% e 65,2%, respectivamente, para contração irregular detectada no enema baritado. Sensibilidade, especificidade, VPP e VPN foram de 23,3%, 100%, 100% e 56,6%, respectivamente, para a irregularidade da mucosa. Conclusão: O achado mais sensível foi zona de transição. Os achados mais específicos foram contração irregular, irregularidade da mucosa, e seguido por aparecimento de mucosa em forma de paralelepípedos.

Contrast Enema for Hirschsprung Disease Investigation: Diagnostic Accuracy and Validity for Subsequent Diagnostic and Surgical Planning.

INTRODUCTION: A targeted Hirschsprung disease (HD) diagnostic is necessary, as it determines a specific approach primarily based on surgical resection of the affected aganglionic colonic segment. The aim of this study was to evaluate the diagnostic accuracy of a contrast enema (CE) for HD diagnosis and to determine whether it should be performed before or after rectal biopsies (RBs). METHODS: A retrospective observational study of children undergoing RB for HD investigation was performed. In the performed CE, the occurrence and the level of a colonic caliber change (CCC) were recorded and its concordance with the histologically assessed level of aganglionosis by RB and the odds ratio were calculated. RESULTS: A total of 107 cases were included. Sensitivity and specificity for a CCC in CE were 74.1% and 94.6%. A CCC present in CE was associated with a 50-fold increased probability for a histologically proven HD. The overall concordance between a CCC and the histologically assessed level of aganglionosis was high (kappa 0.642, p = 0.003), being correct in 94.4% of cases when the CCC was located in the rectosigmoid, but only in 50% of cases when it was located in more proximal segments. By performing a CE only after HD diagnosis confirmation by RB would avoid 67.5% of CE with no loss of diagnostic accuracy. CONCLUSION: We confirm that CE is a valuable tool for HD diagnosis; however, it should only be performed for subsequent diagnostic and surgical planning following histological confirmation of HD by RB. On the basis of this, an algorithm for an optimized investigation and management of HD is presented.

The utility of the contrast enema in neonates with suspected Hirschsprung disease.

BACKGROUND/PURPOSE: The contrast enema (CE) is commonly utilized for suspected Hirschsprung disease (HD) patients. We set out to determine the utility of the CE in the newborn for clinically suspicious HD. METHODS: All CEs performed for suspicion of HD in neonates from January 2004 to December 2013 were reviewed by two pediatric radiologists who were blinded to the original interpretations and final diagnoses. A standardized scoring sheet was utilized to document essential radiographic findings. Definitive diagnoses were determined by pathology. Descriptive statistics, likelihood ratios, and interrater agreement were determined. RESULTS: 158 CEs were reviewed. Interrater agreement was 89% with kappa (95% CI) of 0.63 (0.47-0.76). Common indications for CE were similar between non-HD and HD groups. The positive, inconclusive, and negative likelihood ratios (95% CI) were 38 (10-172), 3.2 (1.3-9.1), and 0.15 (0.06-0.47), respectively, leading to posttest probabilities for positive, inconclusive, and negative tests of 83%, 32%, and 2.5%, respectively. CONCLUSIONS: Although radiographic positive CE for HD portends a high probability of HD, inconclusive studies still represent a significant increased risk. In clinically suspicious infants for HD, those with inconclusive studies may benefit from a lower threshold to perform follow-up rectal biopsy.

The value of the 24-h delayed abdominal radiograph of barium enema in the diagnosis of Hirschsprung's disease.

AIM OF STUDY: The objective of this study is to determine the diagnostic value of the 24-h delayed film for Hirschsprung's disease (HD). Other features of the barium enema were also examined, in particular the correlation between the radiological transition zone (TZ) and the final pathology. METHODS: All patients with suspected HD from 2003 to 2013 who had undergone barium enema and rectal biopsy were reviewed retrospectively to study the correlation between radiological features of barium enema with the final diagnosis as well as severity. RESULTS: A total of 182 patients were admitted for suspected HD during the study period, of which 82 had both investigations done. 68 patients had radiological features suggestive of the disease and ultimately, 12 patients had the disease confirmed with rectal biopsy. Among those without radiological features of HD, 2 patients were found to have the disease. Thus, the sensitivity of the 24-h delayed film was 85.7 % and the specificity was 17.6 %. The positive predictive value (PPV) of this test was 20.6 % and the negative predictive value (NPV) was 85.7 %. Regarding the level of TZ, it was not detected in the barium enema in 7 (50 %) out of the 14 patients. For those with the presence of TZ, 6 (85.7 %) of them correlated well with the intra-operative findings and 4 (57.1 %) of them correlated well with the final histology. CONCLUSION: The 24-h delayed film of barium enema has a high NPV and is useful to rule out HD. However, rectal biopsy is still suggested for disease confirmation given its low PPV. Lastly, once present, the level of radiological TZ is also a useful predictor for the actual disease involvement.

Renal excretion of water-soluble contrast media after enema in the neonatal period.

BACKGROUND: When abdominal distention occurs or bowel obstruction is suspected in the neonatal period, a water-soluble contrast enema is helpful for diagnostic and therapeutic purposes. The water-soluble contrast medium is evacuated through the anus as well as excreted via the kidneys in some babies. This study was designed to evaluate the incidence of renal excretion after enemas using water-soluble contrast media and presume the causes. METHODS: Contrast enemas using diluted water-soluble contrast media were performed in 23 patients under 2 months of age. After the enema, patients were followed with simple abdominal radiographs to assess the improvement in bowel distention, and we could also detect the presence of renal excretion of contrast media on the radiographs. Reviewing the medical records and imaging studies, including enemas and consecutive abdominal radiographs, we evaluated the incidence of renal excretion of water-soluble contrast media and counted the stay duration of contrast media in urinary tract, bladder, and colon. RESULTS: Among 23 patients, 12 patients (52%) experienced the renal excretion of water-soluble contrast media. In these patients, stay-in-bladder durations of contrast media were 1-3 days and stay-in-colon durations of contrast media were 1-10 days, while stay-in-colon durations of contrast media were 1-3 days in the patients not showing renal excretion of contrast media. The Mann-Whitney test for stay-in-colon durations demonstrated the later evacuation of contrast media in the patients with renal excretion of contrast media (p = 0.07). The review of the medical records showed that 19 patients were finally diagnosed as intestinal diseases, including Hirschsprung's disease, meconium ileum, meconium plug syndrome, and small bowel atresia or stenosis. Fisher's exact test between the presence of urinary excretion and intestinal diseases indicated a statistically significant difference (p = 0.04). CONCLUSION: The intestinal diseases causing bowel obstruction may increase the water-soluble contrast media's dwell time in the bowel and also increase urinary excretion.

Does the radiographic transition zone correlate with the level of aganglionosis on the specimen in Hirschsprung's disease?

PURPOSE: The correlation between radiographic transition zone on contrast enema in Hirschsprung's disease and the total length of aganglionosis is known to be inaccurate. The aim of our study was to analyse this correlation more precisely to improve preoperative planning of the corrective surgery. METHODS: From 1998 to 2009, 79 patients were operated on for Hirschsprung's disease. All available preoperative contrast enemas (n = 61) had been single blind reviewed by the same radiologist who defined the radiographic transition zone when present in vertebral level. Four groups were determined (rectal, rectosigmoid, long segment, and absence of transition zone) and by Kappa coefficient of agreement correlated to the length of aganglionosis in the pathological report. RESULTS: Radiological findings were concordant with the specimen in pathology in 8 cases of 19 in rectal form (42 %), in 20 cases of 35 in rectosigmoid form (57 %), in all 6 cases of long-segment form (100 %), in the 2 cases of total colonic form (100 %) with a global agreement of 58.1 %, κ = 0.39 CI [0.24; 0.57]. CONCLUSION: Correlation between level of radiographic transition zone on contrast enema and length of aganglionosis remains low. Systematic preoperative biopsy by coelioscopy or ombilical incision is mandatory.