ArticleBMC pediatrics2025
The burden of delayed diagnosis in Hirschsprung disease: insights from a Paediatric Colorectal Centre in South Africa.
Article in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Economic evaluation of Hirschsprung disease testing strategies for children with medically-refractory chronic constipation: A cost-effectiveness analysis.Journal of pediatric surgery · 2026Article
- Adult Hirschsprung's disease presenting with a tubulovillous adenocarcinoma: a case report.International journal of surgery case reports · 2026Article
- Surgical Complications in Hirschsprung Disease and the Impact of Botulinum Toxin Injection on Hirschsprung-Associated Enterocolitis.Journal of clinical medicine · 2026Article
- Long-read sequencing and next-generation CRISPR editors: a unified pipeline for rare disease precision medicine with ethical and regulatory perspectives.Frontiers in medicine · 2026Review
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
backgroundDelayed diagnosis of Hirschsprung disease (HD), defined as diagnosis after 12 months of age, is usually uncommon and, according to some authors, associated with a worse outcome. We aim to report our experience in a tertiary hospital in a Low-and-Middle-Income Country (LMIC).
methodsA retrospective analysis was conducted using the RedCap
resultsOf 80 patients with HD, 26 (32.5%) had a delayed diagnosis, with a median age of 3.14 (1-15) years. Of these, 5 patients were excluded from further analyses because they underwent a pull-through elsewhere. Patients with a delayed diagnosis underwent a median of 4 surgical procedures, compared to 3 in those diagnosed earlier (p = 0.013), but 97.5% of them required surgical diagnostic biopsies, compared to 23.8% in the non-delayed group (p < 0.0001). No differences have been noticed in terms of the type of pull-through performed, number of complications and additional procedures required. Incontinence, constipation, and enterocolitis episodes were similar in both groups.
conclusionsDelayed diagnosis of HD can be a burden for the healthcare system, as these patients usually require more surgical procedures compared to non-delayed patients, but even in a LMIC context, no significant differences have been seen in terms of complications and post-surgical outcomes, as well as bowel function.
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