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Hirschsprung's disease complicating colon atresia
1Saint Joseph Hospital, Denver, CO.
Insights
This case highlights a rare infant condition combining colon atresia, total colonic Hirschsprung's disease, and congenital heart disease. Early surgical attempts failed due to unrecognized aganglionosis, emphasizing the need for thorough diagnosis.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Neonatal Medicine
Background:
- Colon atresia and Hirschsprung's disease are rare congenital gastrointestinal anomalies.
- Congenital cardiac defects, such as tetralogy of Fallot, can occur alongside gastrointestinal malformations.
Observation:
- A rare case of an infant presenting with a combination of colon atresia, total colonic Hirschsprung's disease, and tetralogy of Fallot is described.
- Initial surgical interventions for colon atresia were unsuccessful due to the coexisting, unrecognized aganglionosis characteristic of Hirschsprung's disease.
- Histological examinations of resected colon initially showed normal results, with the absence of ganglion cells only appreciated upon review prompted by clinical deterioration.
Findings:
- This is the first reported case of Hirschsprung's disease associated with both colon atresia and congenital cardiac disease.
- Functional obstruction persisted after initial surgeries due to the misdiagnosis of aganglionosis.
Implications:
- Highlights the critical importance of suspecting coexisting Hirschsprung's disease in infants with colon atresia presenting with functional obstruction.
- Underscores the need for careful histological review and clinical correlation to ensure accurate diagnosis and appropriate management of complex neonatal surgical conditions.
- Suggests a potential link or shared etiology between these rare congenital anomalies, warranting further investigation.
Abstract:
An infant with the rare association of colon atresia, total colonic Hirschsprung's disease, and tetralogy of Fallot is presented. While Hirschsprung's disease associated with atresia of the colon has been reported five times previously, this is the first case with associated congenital cardiac disease. As in previous reports, initial operations to relieve obstruction due to the colon atresia failed because of the unrecognized aganglionosis. This infant initially had an ileostomy performed as a newborn and then two failed attempts at closure of the ileostomy. In this case, as in four previously reported cases, histological examinations of resected colon from the initial operations were first reported as normal and only under the pressure of increasing clinical evidence was the pathology reviewed and the absence of ganglion cells appreciated. We stress the importance of suspecting the coexistence of Hirschsprung's disease and colon atresia when a functional obstruction is present after repair of the atresia.