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 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.