Clinical manifestations of Hirschsprung in infants in Iran

Background: Hirschsprung's disease is a major cause of functional intestinal obstruction, mainly affecting the distal region of the large intestine. Risk factors for this disease include a family history of the disease, being male, and the presence of other conditions such as cardiac or chromosomal abnormalities. Methods: Infants admitted to Children's Medical Center Hospital, Tehran university of medical science between April 2017 to April 2021 with a diagnosis of Hirschsprung's disease were included in this study. Demographic information, clinical and radiological findings, and complications were recorded on customized forms. Results: In this study, 29 neonates were included. The clinical manifestations of Hirschsprung in this study were failure to defecation in the first two days of birth, abdominal distention, and bilious vomiting. The most common complaint at the time of visit was constipation and vomiting, and the most common clinical finding at the time of hospitalization was abdominal distension. The most common radiological manifestation in the simple X-ray of affected neonates was the dilation of the intestinal loops and in the barium enema transitional zone. In the delayed X-ray, the delay in emptying the barium was observed. in neonate with Hirschsprung's disease Heart disease was a common comorbidity (27.2%). The most common heart disease was Atrial Septal Defect (ASD). The most histological involvement was in the rectal and rectosigmoid areas. The most common complication of Hirschsprung in the follow-up of neonates until at least 6 months of age was poor weight gain, constipation and fecal incontinence. We had three deaths, one case with Small intestine, one case with heart disease and one case with multiple anomalies. Conclusion: The results of this study are consistent with previous research showing that genetic variations do not have a major impact on the clinical presentation of newborns with Hirschsprung's disease. While diagnostic methods like x-ray and contrast enema can be useful, biopsy is the most reliable way to confirm a diagnosis of Hirschsprung's disease. Physicians should consider performing a biopsy when evaluating a suspected case of this condition.