Adult Hirschsprung's disease diagnosed during forensic autopsy

Area of Science:

• Gastroenterology
• Pediatric Surgery
• Forensic Pathology

Background:

• Hirschsprung disease (HD) is a congenital condition characterized by the absence of ganglion cells in the distal bowel.
• While typically diagnosed in infancy, HD can remain undiagnosed into adulthood, presenting with chronic constipation.
• Adult presentations of HD are rare and often associated with delayed diagnosis and potential complications.

Observation:

• A 20-year-old male presented with sudden collapse and cardiac arrest.
• Autopsy revealed a megacolon with gas and stool, and microscopic confirmation of aganglionosis in the rectum.
• Evidence of enterocolitis was present in the left and transverse colon.

Findings:

• The case demonstrates a fatal outcome of undiagnosed Hirschsprung disease in a young adult.
• Enterocolitis, a known complication of HD, was identified in this adult case, suggesting its potential severity.
• The autopsy findings confirmed a short segment of aganglionic bowel, which can contribute to delayed diagnosis.

Implications:

• This case underscores the importance of considering Hirschsprung disease in adults with a history of chronic constipation.
• Early diagnosis and management of HD in childhood are crucial to prevent severe, potentially fatal, complications.
• Forensic autopsies can reveal critical diagnostic clues for congenital conditions like HD that were missed during a patient's lifetime.