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Published on: April 26, 2019
Appendiceal perforation, pneumoperitoneum, and Hirschsprung's disease
B Newman1, A Nussbaum, J A Kirkpatrick
1Children's Hospital, Boston, Massachusetts.
Insights
Infants with a perforated appendix may have total colonic Hirschsprung's disease. This rare condition requires prompt diagnosis and treatment to prevent serious complications.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Neonatal Care
Background:
- Hirschsprung's disease is a congenital disorder affecting the large intestine.
- Appendiceal perforation is a rare but severe complication in infants.
- Total colonic Hirschsprung's disease (TCH) presents a diagnostic challenge.
Observation:
- A case report of an infant presenting with appendiceal perforation secondary to TCH.
- Radiographic pneumoperitoneum was a key indicator in this presentation.
- Literature review of similar rare presentations.
Findings:
- TCH should be considered in infants with perforated appendix, particularly with pneumoperitoneum.
- Early identification of TCH is crucial for timely surgical intervention.
- This presentation highlights a critical, albeit uncommon, manifestation of Hirschsprung's disease.
Implications:
- Suggests a need for increased awareness among clinicians regarding this association.
- Emphasizes the importance of prompt diagnosis and management to reduce infant morbidity and mortality.
- Highlights the diagnostic utility of radiographic findings in complex neonatal surgical cases.
Abstract:
In this report, we describe an infant with appendiceal perforation due to total colonic Hirschsprung's disease, to emphasize this rare but important presentation of Hirschsprung's disease. Based on our own experience and a survey of similar cases, we suggest that an underlying etiology, namely long-segment Hirschsprung's disease, should be suspected in infants with a perforated appendix, especially when a radiographic pneumoperitoneum is present. Prompt diagnosis and appropriate therapy is essential in this situation to prevent morbidity and mortality.
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