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Updated: Jul 1, 2025

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Delayed diagnosis in Hirschsprung disease.

Alessio Pini Prato1, M Erculiani2, M L Novi2

  • 1Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy. apini@ospedale.al.it.

Pediatric Surgery International
|March 4, 2024
PubMed
Summary

Delayed diagnosis of Hirschsprung disease, often due to mild symptoms, affects a notable percentage of patients. Despite this delay, overall outcomes remain comparable to those diagnosed promptly, emphasizing early investigation for constipation.

Keywords:
AdultsDelayed diagnosisEnterocolitisHirschsprungPull-through

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Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Medical Diagnostics

Background:

  • Hirschsprung disease diagnosis is typically prompt, with delayed diagnosis defined as after 12 months of age.
  • Delayed diagnosis may be associated with poorer patient outcomes.
  • This study investigates features of patients with delayed Hirschsprung disease diagnosis.

Purpose of the Study:

  • To identify key characteristics of patients experiencing delayed diagnosis of Hirschsprung disease.
  • To compare these features with those of patients diagnosed without delay.

Main Methods:

  • Retrospective enrollment of 45 patients with delayed Hirschsprung disease diagnosis (Jan 2017-July 2023).
  • Assessment of demographic data, phenotype, genotype, surgical complications, and outcomes.
  • Comparison with literature and a cohort diagnosed without delay.

Main Results:

  • Median age at diagnosis was 41 months (range 17 months-58 years).
  • 58% of delayed diagnosis patients had normal meconium passage, significantly higher than non-delayed cases (p=0.0140).
  • No statistically significant differences in other variables (anomalies, enterocolitis, complications, functional outcome) were found compared to non-delayed cases.

Conclusions:

  • A significant proportion of Hirschsprung disease cases are missed neonatally, often due to mild symptoms.
  • Overall patient outcomes are not significantly different between delayed and non-delayed diagnosis groups.
  • Thorough investigation of meconium issues and early rectal biopsies in constipated children are crucial to prevent misdiagnosis.