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Delayed diagnosis in Hirschsprung disease

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Abstract

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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Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Abbreviations

HSCR:

Hirschsprung

HAEC:

Hirschsprung-associated enterocolitis

IBD:

Inflammatory bowel disease

RET:

RET gene

PHOX2B:

PHOX2B gene

TCSA:

Total colonic aganglionosis

A&E:

Accident and emergency

CAKUT:

Congenital anomalies of the kidney and urinary tract

CCHS:

Congenital central hypoventilation syndrome

CHD:

Congenital heart disease

ARM:

Anorectal malformations

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Authors and Affiliations

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

    Alessio Pini Prato, M. Erculiani, M. L. Novi, M. Caraccia, A. Grandi, S. Casella, L. Giacometti, G. Montobbio & G. Mottadelli

Authors
  1. Alessio Pini Prato
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  2. M. Erculiani
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  3. M. L. Novi
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  4. M. Caraccia
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  5. A. Grandi
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  6. S. Casella
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  7. L. Giacometti
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  8. G. Montobbio
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  9. G. Mottadelli
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Contributions

APP drafted the manuscript and conceived the methodology, ME, SC, and LG reviewed the data registry and collected clinical data, MLN enrolled adult patients, MC and AG participated in conceiving the methodology, GM reviewed the draft and implemented the final version of the paper. All authors reviewed the manuscript

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Correspondence to Alessio Pini Prato.

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Pini Prato, A., Erculiani, M., Novi, M.L. et al. Delayed diagnosis in Hirschsprung disease. Pediatr Surg Int 40, 65 (2024). https://doi.org/10.1007/s00383-024-05657-5

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