Detection and management of Hirschsprung’s disease in neonates

Abstract Background Hirschsprung’s disease is characterized by the absence of ganglion cells from the anorectum to a variable colonic or intestinal distance. Ninety percent of HD cases show clinical symptoms in the neonatal period. The main picture of HD in newborns is delayed meconium passing. The...

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Main Authors: Mahmoud Abdalla Rahmo, Sherif Nabhan Kaddah, Ahmed Ezzat, Osama Abdelazim
Format: Article
Language:English
Published: SpringerOpen 2025-08-01
Series:Egyptian Pediatric Association Gazette
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Online Access:https://doi.org/10.1186/s43054-025-00364-9
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author Mahmoud Abdalla Rahmo
Sherif Nabhan Kaddah
Ahmed Ezzat
Osama Abdelazim
author_facet Mahmoud Abdalla Rahmo
Sherif Nabhan Kaddah
Ahmed Ezzat
Osama Abdelazim
author_sort Mahmoud Abdalla Rahmo
collection DOAJ
description Abstract Background Hirschsprung’s disease is characterized by the absence of ganglion cells from the anorectum to a variable colonic or intestinal distance. Ninety percent of HD cases show clinical symptoms in the neonatal period. The main picture of HD in newborns is delayed meconium passing. The patient’s medical history, radiological testing (an unprepared water soluble contrast enema), and a histological analysis of a rectal biopsy are used to make the diagnosis. In order to improve the outcome of HD through early detection and management, the purpose of our study was to obtain insight into the clinical characteristics and severity of complications of HD among neonates as they awaited a definitive operation. Methods This prospective observational study was carried out on 100 neonates with a picture suggestive of Hirschsprung’s disease presented to the emergency department and outpatient clinics of Cairo University Specialized Pediatric Hospital from March 2023 to February 2024. Patients’ characteristics such as gestational age, age at presentation, gender, and birth weight were noted. History and clinical picture at presentation were assessed. Investigations and initial management of Hirschsprung’s disease-related complications while awaiting surgery were documented. Results Eighty-five (85%) patients admitted to NICU presented with a picuture of HD complication, lower GI obstruction was encountered in 75 (88.24%) patients, enterocolitis in 7 (8.24%) patients and pneumoperitoneum in 3 (3.53%) patients. Conservative management was offered to 82 patients out of 85 (GI obstruction and enterocolitis cases). Forty-nine patients (59.79%) of the 75 with obstruction responded to the conservative treatment and the remaining 26 cases needed emergency laparotomy. Out of the 7 cases with enterocolitis, only 3 cases needed emergency laparotomy while the other 4 cases (4.88%) conservative treatment was successful. Three patients presented with pneumoperitoneum were offered immediate surgical exploration after resuscitation. So, emergency surgical exploration was performed in 32 (37.65%) of the patients. Fifteen patients (15%) had a non-complicated picture and presented just by delayed passage of meconium and did not need NICU admission. Conclusion The aim of our study was to observe the various clinical features of Hirschsprung’s disease (HD) in neonates to enable early detection and management. This allows minimizing the potential complications, such as obstructive episodes, enterocolitis, and associated mortality and morbidity, including stoma complications and the need for multiple surgeries prior to the definitive procedure. High index of suspicion was the key for diagnostic work-up of HD in neonates. Therefore, the early detection of Hirschsprung’s disease (HD) in neonates is crucial for improving outcomes and care.
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spelling doaj-art-eb2213fca824478a9a418a3ec178c11b2025-08-20T03:45:48ZengSpringerOpenEgyptian Pediatric Association Gazette2090-99422025-08-0173111010.1186/s43054-025-00364-9Detection and management of Hirschsprung’s disease in neonatesMahmoud Abdalla Rahmo0Sherif Nabhan Kaddah1Ahmed Ezzat2Osama Abdelazim3Armed Forces College of MedicineCairo University HospitalsCairo University HospitalsCairo University HospitalsAbstract Background Hirschsprung’s disease is characterized by the absence of ganglion cells from the anorectum to a variable colonic or intestinal distance. Ninety percent of HD cases show clinical symptoms in the neonatal period. The main picture of HD in newborns is delayed meconium passing. The patient’s medical history, radiological testing (an unprepared water soluble contrast enema), and a histological analysis of a rectal biopsy are used to make the diagnosis. In order to improve the outcome of HD through early detection and management, the purpose of our study was to obtain insight into the clinical characteristics and severity of complications of HD among neonates as they awaited a definitive operation. Methods This prospective observational study was carried out on 100 neonates with a picture suggestive of Hirschsprung’s disease presented to the emergency department and outpatient clinics of Cairo University Specialized Pediatric Hospital from March 2023 to February 2024. Patients’ characteristics such as gestational age, age at presentation, gender, and birth weight were noted. History and clinical picture at presentation were assessed. Investigations and initial management of Hirschsprung’s disease-related complications while awaiting surgery were documented. Results Eighty-five (85%) patients admitted to NICU presented with a picuture of HD complication, lower GI obstruction was encountered in 75 (88.24%) patients, enterocolitis in 7 (8.24%) patients and pneumoperitoneum in 3 (3.53%) patients. Conservative management was offered to 82 patients out of 85 (GI obstruction and enterocolitis cases). Forty-nine patients (59.79%) of the 75 with obstruction responded to the conservative treatment and the remaining 26 cases needed emergency laparotomy. Out of the 7 cases with enterocolitis, only 3 cases needed emergency laparotomy while the other 4 cases (4.88%) conservative treatment was successful. Three patients presented with pneumoperitoneum were offered immediate surgical exploration after resuscitation. So, emergency surgical exploration was performed in 32 (37.65%) of the patients. Fifteen patients (15%) had a non-complicated picture and presented just by delayed passage of meconium and did not need NICU admission. Conclusion The aim of our study was to observe the various clinical features of Hirschsprung’s disease (HD) in neonates to enable early detection and management. This allows minimizing the potential complications, such as obstructive episodes, enterocolitis, and associated mortality and morbidity, including stoma complications and the need for multiple surgeries prior to the definitive procedure. High index of suspicion was the key for diagnostic work-up of HD in neonates. Therefore, the early detection of Hirschsprung’s disease (HD) in neonates is crucial for improving outcomes and care.https://doi.org/10.1186/s43054-025-00364-9Hirschsprung’s diseaseNeonatesEarly detectionOutcome
spellingShingle Mahmoud Abdalla Rahmo
Sherif Nabhan Kaddah
Ahmed Ezzat
Osama Abdelazim
Detection and management of Hirschsprung’s disease in neonates
Egyptian Pediatric Association Gazette
Hirschsprung’s disease
Neonates
Early detection
Outcome
title Detection and management of Hirschsprung’s disease in neonates
title_full Detection and management of Hirschsprung’s disease in neonates
title_fullStr Detection and management of Hirschsprung’s disease in neonates
title_full_unstemmed Detection and management of Hirschsprung’s disease in neonates
title_short Detection and management of Hirschsprung’s disease in neonates
title_sort detection and management of hirschsprung s disease in neonates
topic Hirschsprung’s disease
Neonates
Early detection
Outcome
url https://doi.org/10.1186/s43054-025-00364-9
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AT osamaabdelazim detectionandmanagementofhirschsprungsdiseaseinneonates