Abstract

Hirschsprung disease is the most common congenital gut motility disorder and usually diagnosed in the neonatal period. It is caused by an aganglionic bowel segment resulting in absence of intestinal peristalsis and functional obstruction. Diagnosis should be considered in all patients with constipation that does not respond to conventional treatment. Radiography and contrast enema are important diagnostic exams, but the definitive diagnosis is established through histochemical analysis of aganglionic segment biopsy. Treatment is surgical and early recognition is important to avoid complications and improve prognosis. Herein is reported the clinical case of a young infant presenting to the Pediatric Emergency Department with nausea, vomiting, constipation, refusal to feed, and important abdominal distension. Abdominal radiograph and contrast enema were compatible with Hirschsprung disease. Biopsy histochemical analysis confirmed the diagnosis and surgical treatment was performed.

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