Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Abstract

Hirschsprung disease, a rare genetic disorder affecting the enteric nervous system, is characterized by the absence of ganglion cells in the myenteric plexus. Typically identified in neonates due to the failure to pass meconium, diagnosis beyond the first year of life is considered delayed. Common clinical manifestations in children with late-onset Hirschsprung disease include abdominal distension, abdominal pain, vomiting, fever, and abnormal bowel sounds. Sigmoid volvulus, though uncommon, can complicate Hirschsprung disease, potentially leading to misdiagnosis and severe complications such as intestinal perforation, hemorrhage, sepsis, and even mortality. Non-surgical interventions such as antibiotic therapy, intestinal decompression, and fluid resuscitation are preferred initial treatments to stabilize the patient. This case involves a 9-year-old boy who has presented with abdominal distension since birth and a lengthy history of irregular bowel habits. The diagnosis of Hirschsprung disease was confirmed at our institution, and the patient underwent a two-stage repair procedure, which was completed without any intraoperative or postoperative complications. The patient experienced an uneventful recovery, was discharged with stable vital signs, and regained normal bowel function. This case highlights the challenges of delayed diagnosis at nine years and underscores the importance of prompt management.

Keywords: abdominal distension; chronic constipation; colostomy; hirschsprung disease; late diagnosis.

Figure 1. Abdominal radiograph showing dilated large bowel loops, with the largest dimension in the transverse colon noted as 72.91 mm

Figure 2. Contrast enema showing the transition zone

The red arrow shows a dilated colon, the yellow arrow shows the transition zone, and the green arrow shows a narrow rectum.

Figure 3. Histopathology slide showing Hirschsprung disease—the absence of ganglion cells and hypertrophic nerve bundles