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Updated: Jul 1, 2025
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
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.
Insights
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.
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.
Introduction:
Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease.
Materials And Methods:
All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis.
Results:
A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay.
Conclusions:
The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.
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