[Enterocolitis as a complication of late-diagnosed Hirschsprung disease]

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Hirschsprung disease is a congenital condition characterized by the absence of ganglion cells in the distal bowel, leading to functional obstruction.
• Enterocolitis is a severe complication associated with Hirschsprung disease, carrying significant morbidity and mortality.
• Individuals with trisomy 21 (Down syndrome) have a higher prevalence of Hirschsprung disease and an increased risk of developing enterocolitis.

Observation:

• This report details the case of an infant diagnosed with trisomy 21.
• The infant presented with symptoms indicative of enterocolitis, a known complication of Hirschsprung disease.
• Diagnosis of Hirschsprung disease was significantly delayed in this patient.

Findings:

• The infant experienced septic shock as a direct consequence of enterocolitis.
• Late diagnosis of Hirschsprung disease contributed to the severity of the enterocolitis.
• The patient ultimately succumbed to the complications of the disease.

Implications:

• This case underscores the critical importance of early diagnosis and prompt management of Hirschsprung disease in infants, particularly those with trisomy 21.
• Timely intervention can mitigate the risk of severe complications like enterocolitis and septic shock.
• Increased awareness and vigilance are necessary for healthcare providers managing infants with trisomy 21 and suspected Hirschsprung disease.