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The association of imperforate anus and Hirschsprung's disease in siblings
Journal of Pediatric Surgery
|June 1, 1985
Insights
Early diagnosis of Hirschsprung's disease (HSCR) is often delayed in infants with imperforate anus. This case highlights the importance of suspecting HSCR in these patients to ensure timely and accurate diagnosis.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Imperforate anus is a congenital condition requiring surgical correction.
- Hirschsprung's disease involves aganglionosis of the distal bowel, causing functional obstruction.
- Delayed diagnosis of Hirschsprung's disease can lead to severe complications.
Observation:
- Two siblings from a consanguineous family presented with imperforate anus.
- Post-surgical repair of anorectal malformation, both siblings experienced persistent constipation.
- Colon biopsies revealed long segment aganglionosis extending to the splenic flexure in both siblings.
Findings:
- The coexistence of imperforate anus and Hirschsprung's disease was confirmed in these siblings.
- Long segment aganglionosis was the underlying pathology for persistent constipation.
- Consanguinity may increase the risk of these co-occurring conditions.
Implications:
- A high index of suspicion for Hirschsprung's disease is crucial in infants with imperforate anus.
- Early diagnosis and appropriate management can prevent severe complications associated with coexisting conditions.
- Genetic counseling may be beneficial for families with a history of these congenital anomalies.
Abstract:
The recognition of Hirschsprung's disease is often delayed in children with imperforate anus. Two siblings with imperforate anus who were born of consanguineous parents had persistent constipation after the repair of the anorectal malformation. Subsequently colon biopsy confirmed that each had long segment aganglionosis beginning at the splenic flexure. A suspicion that these two disorders may coexist is mandatory for early correct diagnosis.