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

Vlok, Sucari S.C.; Moore, Sam; Schubert, Pawel; Pitcher, R

doi:10.1007/s00247-020-04631-2

Cited by 10 publications

(5 citation statements)

References 23 publications

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“…Papers focused on different issues, including challenges faced by patients in accessing surgical care e.g. [ 25 , 35 , 37 ] (including due to COVID-19, [ 57 ]); and performing surgery for complex anomalies [ 37 , 38 ]; the quality of peri- and/or post-operative surgical care (e.g., [ 32 , 33 ]); outcome/survival after surgery (e.g., [ 19 , 89 , 120 ]); and developing cost-effective, local surgical management tools (e.g. management silos for gastroschisis [ 58 ]).…”

Section: Resultsmentioning

confidence: 99%

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Leke,

Malherbe,

Kalk

et al. 2023

PLOS Glob Public Health

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The aim of this scoping review was to determine the scope, objectives and methodology of contemporary published research on congenital anomalies (CAs) in sub-Saharan Africa (SSA), to inform activities of the newly established sub-Saharan African Congenital Anomaly Network (sSCAN). MEDLINE was searched for CA-related articles published between January 2016 and June 2021. Articles were classified into four main areas (public health burden, surveillance, prevention, care) and their objectives and methodologies summarized. Of the 532 articles identified, 255 were included. The articles originated from 22 of the 49 SSA countries, with four countries contributing 60% of the articles: Nigeria (22.0%), Ethiopia (14.1%), Uganda (11.7%) and South Africa (11.7%). Only 5.5% of studies involved multiple countries within the region. Most articles included CA as their primary focus (85%), investigated a single CA (88%), focused on CA burden (56.9%) and care (54.1%), with less coverage of surveillance (3.5%) and prevention (13.3%). The most common study designs were case studies/case series (26.6%), followed by cross-sectional surveys (17.6%), retrospective record reviews (17.3%), and cohort studies (17.2%). Studies were mainly derived from single hospitals (60.4%), with only 9% being population-based studies. Most data were obtained from retrospective review of clinical records (56.1%) or via caregiver interviews (34.9%). Few papers included stillbirths (7.5%), prenatally diagnosed CAs (3.5%) or terminations of pregnancy for CA (2.4%).This first-of-a-kind-scoping review on CA in SSA demonstrated an increasing level of awareness and recognition among researchers in SSA of the contribution of CAs to under-5 mortality and morbidity in the region. The review also highlighted the need to address diagnosis, prevention, surveillance and care to meet Sustainable Development Goals 3.2 and 3.8. The SSA sub-region faces unique challenges, including fragmentation of efforts that we hope to surmount through sSCAN via a multidisciplinary and multi-stakeholder approach.

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Section: Resultsmentioning

confidence: 99%

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Leke,

Malherbe,

Kalk

et al. 2023

PLOS Glob Public Health

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“…This can facilitate the selection of suspected patients for biopsy procedures and also has 86% sensitivity and 90.5% speci city in determining the transition zone. [7] However, as mentioned in some studies, the use of contrast enema in determining the location of the transition zone lacks signi cant accuracy. In another study, the sensitivity of contrast enema in diagnosing the transition zone was 70%, with an average speci city of 83%.…”

Section: Discussionmentioning

confidence: 99%

Investigating the use of nerve fiber diameter for a more accurate diagnosis of the length of the aganglionic segment in patients with Hirschsprung's disease compared to intraoperative biopsy

Talebi,

Kahdouei,

Memar

et al. 2024

Preprint

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Objective: The aim of this study is to investigate the accuracy of utilizing nerve fiber diameter in accurately diagnosing the length of the aganglionic segment in patients definitively diagnosed with Hirschsprung's disease. Results: In this study, 40 patients (19 males, 21 females; mean age 2.5±2.2646 years) were assessed for Hirschsprung's disease. Constipation was the main symptom (75%), followed by abdominal issues. All underwent contrast enema and rectal suction biopsy for diagnosis, followed by surgery (predominantly Soave and Swensen techniques). Majority (85%) had rectosigmoid involvement. Neural fiber diameter was measured, with 52.5% ≤40 µm and 47.5% >40 µm. Statistical analysis showed 40% sensitivity(CI:95%) and 47% specificity(CI:95%) with a cutoff of 40.5 µm. Cohen's kappa index for aganglionic segment size was 0.7.

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“…However, the water-soluble contrast enema, which has been used for more than 50 years to diagnose Hirschsprung’s disease, is a radiologic examination of choice. It shows a transition zone between a narrow distal aganglionic bowel segment and distended proximal ganglionated bowel, which is considered to be the most accurate radiologic feature of Hirschsprung’s disease [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Adult Hirschsprung’s disease presenting as chronic constipation: a case report

Rahardjo

Nurzaman²,

Natalia

et al. 2023

J Med Case Reports

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Background Hirschsprung’s disease is a congenital disorder identified by the absence of ganglion cells at the Meissner’s plexus of the submucosa and Auerbach’s plexus of the muscularis. This disease can be found in approximately 1 in 5000 live births. It is a congenital disorder that is rarely diagnosed in adults, where 95% of cases are diagnosed in infants aged under 1 year old. Here we present a rare case of adult Hirschsprung’s disease to enrich the body of knowledge in diagnosing adult patients with chronic refractory constipation symptoms. Case report An 18-year-old Indonesian woman came to the general surgery department of Unggul Karsa Medika Teaching Hospital with a defecating problem (constipation) since childhood. There was no history of her passage of meconium. A contrast enema study showed that the sigmoid colon was dilated and the rectum was narrowed, with rectosigmoid index < 1. With these findings, it was suspected that the patient may have ultra-short segment Hirschsprung’s disease. The patient was then referred to the digestive surgery department of referral hospital for surgical treatment. Conclusion In adult patients presenting with history of constipation since childhood, it is necessary to consider the possibility of Hirschsprung’s disease that was not diagnosed in early childhood. Hirschsprung’s disease in adults is usually a short or ultra-short aganglionic segment because it shows relatively mild symptoms. Surgical removal of the aganglionic segment of the gut is the definitive treatment for Hirschsprung’s disease.

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

Cited by 10 publications

References 23 publications

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Investigating the use of nerve fiber diameter for a more accurate diagnosis of the length of the aganglionic segment in patients with Hirschsprung's disease compared to intraoperative biopsy

Adult Hirschsprung’s disease presenting as chronic constipation: a case report

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