Diagnosis of Hirschsprung's disease.

O’Donovan, Aoife; Habra, G; Somers, Sat; Malone, Dermot E.; Rees, Andrew J.; Winthrop, Andrea

doi:10.2214/ajr.167.2.8686640

Cited by 61 publications

(45 citation statements)

References 6 publications

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“…However, this method of scoring was not very effective in our study and we decided to consider two points for positive results in RSI and TZ and one point for positive results related to lack of meconium defecation, cobblestone appearance, irregular contraction, and level of filling defect. 8 Previous studies have shown the TZ and RSI as the most common signs in CE. 14,37,38 The sensitivity and specificity of CE in the diagnosis of HD has shown a wide range, between 60% to 100%.…”

Section: Discussionmentioning

confidence: 95%

“…5,6 A funnel shaped transition zone on a contrast enema (CETZ) at the junction of aganglionic and ganglionic gut is considered a hallmark for its diagnosis. [7][8][9] Knowledge of the extent of aganglionic bowel on contrast enema is important for preoperative planning of trans-anal surgery. 10 HD is accepted as being a sex-linked heterogonous disorder with differing phenotypic expressions and degrees of severity.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

et al. 2017

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Background: Hirschsprung disease (HD) is a developmental disorder characterized by absence of ganglia in the distal colon, resulting in a functional obstruction. It is a common cause of pediatric intestinal obstruction. Objective of present study was to evaluate a checklist of radiologic and clinical signs to determine the probability of HD in suspicious patients.Methods: In a diagnostic accuracy study, 19 children with clinical manifestations of HD attended pediatric OPD in a tertiary care teaching hospital, Haldia from January 2014 to December 2016 were assessed. A checklist was used to evaluate the items proposed by contrast enema (CE), based on six subscales, including transitional zone, rectosigmoid index (RSI), irregular contractions in aganglionic region, cobblestone appearance, filling defect due to fecaloid materials and lack of meconium defecation during the first 48 hours after birth. The patients were classified as high score and low score. Sensitivity and specificity were calculated for identifying HD, in comparison with pathologically proved or ruled out HD.Results: Of the 19 patients, 11 (57.89%) cases had HD and 08 (42.11%) cases were without HD. The mean age was 2.793 ± 4.21 months. Abdominal distension, lack of meconium defecation, and constipation were the most common clinical symptoms with frequencies of 15 (78.9%), 11 (57.8%), and 14 (73.68%), respectively. In summary, the mean sensitivity of detecting the radiological signs of transition zone, spastic colon, reversed recto-sigmoid index and the overall impression in histological confirmed HD patients are 59.09%, 49.99%, 59.09% and 56.06% respectively.Conclusions: The mean specificity of detecting the absence of the radiological signs of transition zone, spastic colon, reversed recto-sigmoid index and the overall impression in histological confirmed non-HD patients are 68.75%, 81.25%, 87.5% and 79.17% respectively. This would in turn give an overall mean specificity rate of 79.17% in successfully excluding HD with the above mentioned radiological signs from the contrast enema.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

et al. 2017

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“…Furthermore the use of a water-soluble contrast agent, particularly in infants, is safer since there may be a risk of perforation [12].…”

Section: The Modified Contrast Enemamentioning

confidence: 99%

Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease

et al. 2013

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General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.• Users may download and print one copy of any publication from the public portal for the purpose of private study or research.• You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Objective: To see if the rectoanal inhibitory reflex could be visualized with a modified contrast enema, thereby increasing the diagnostic accuracy of the contrast enema and reducing the number of rectal biopsies.Materials and method: 59 boys and 42 girls (median age 12 months) with suspected Hirschsprung disease were examined with a modified contrast enema, supplemented with two injections of cold, water-soluble contrast medium, in order to induce the reflex. Two paediatric radiologists evaluated the anonymised examinations in consensus. The contrast enema findings were correlated with the results of rectal biopsy or clinical follow-up.Results: Five boys and one girl (median age 7.5 days) were diagnosed with Hirschsprung disease. The negative predictive value of the rectoanal inhibitory reflex was 100%. A contrast enema with signs of Hirschsprung disease in combination with an absent rectoanal inhibitory reflex had the specificity of 98% and sensitivity of 100% for Hirschsprung disease. Conclusion:The modified contrast enema improves the x-ray diagnosis of Hirschsprung disease. By demonstrating the rectoanal inhibitory reflex in children without Hirschsprung disease the proportion of unnecessary rectal biopsies can be reduced. 3(20)

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“…5,6 A funnel shaped transition zone on a contrast enema (CETZ) at the junction of aganglionic and ganglionic gut is considered a hallmark for its diagnosis. 7,8,9 Knowledge of the extent of aganglionic bowel on contrast enema is important for preoperative planning of trans-anal surgery.…”

Section: Introductionmentioning

confidence: 99%

“…However, this method of scoring was not very effective in our study and we decided to consider two points for positive results in RSI and TZ and one point for positive results related to lack of meconium defecation, cobblestone appearance, irregular contraction, and level of filling defect. 9 Previous studies have shown the TZ and RSI as the most common signs in CE. 14,38,39 The sensitivity and specificity of CE in the diagnosis of HD has shown a wide range, between 60% to 100%.…”

mentioning

confidence: 95%

A Prospective Observational Study to Evaluate the Cases of Suspicious Hirschsprung’s Disease in Neonates and Children Using Radiologic Investigation Method

Gupta¹

2017

JMSCR

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Diagnosis of Hirschsprung's disease.

Cited by 61 publications

References 6 publications

Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease

A Prospective Observational Study to Evaluate the Cases of Suspicious Hirschsprung’s Disease in Neonates and Children Using Radiologic Investigation Method

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