Delayed Diagnosis of Hirschsprung Disease in an 18-Year-Old Male Patient With Fecaloma and Colonic Perforation: A Case Report

Hirschsprung disease is a congenital disorder most commonly diagnosed in the neonatal period or early childhood, typically due to failure to pass meconium within the first 24 hours of life. However, diagnosis may also occur later in adolescence or adulthood in patients with longstanding significant constipation, often leading to delayed recognition and the development of serious complications. We report the case of an 18-year-old male patient with a longstanding history of chronic constipation since infancy, who presented to the emergency department with progressive abdominal distension, abdominal pain, and failure to pass stools. Physical examination revealed severe fecal impaction, and imaging studies demonstrated generalized colonic dilation without evidence of free air. Laboratory findings included hyponatremia, hypokalemia, metabolic acidosis, and evidence of acute decompensation with tissue hypoperfusion. Initial conservative management with intravenous fluids, electrolyte replacement, and enemas provided only partial improvement, and due to progressive deterioration, an urgent exploratory laparotomy was performed. Intraoperative findings revealed megacolon with spontaneous perforation of the descending colon and a large fecaloma. A subtotal colectomy with colostomy was carried out. The diagnosis of short-segment Hirschsprung disease was confirmed histopathologically by the absence of ganglion cells in the submucosal and myenteric plexuses. The postoperative course was favorable, and intestinal transit was later restored in a staged surgical approach. This case highlights the importance of considering organic causes in adolescents with chronic constipation, particularly in the presence of metabolic compromise or acute abdominal complications, as timely surgical intervention can be lifesaving in the context of perforation.