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Fatal Toxic Megacolon in a Child of Hirschsprung Disease
Shiwani R Garg1, Pragati A Sathe2, Annapurna C Taware2
1Fellow in Paediatric Pathology, Department of Pathology, Seth G.S.M.C and KEM Hospital , Mumbai, Maharashtra, India .
Insights
Hirschsprung disease (HD) can present in late childhood, leading to severe complications like toxic megacolon. This case highlights the critical importance of early diagnosis and management of HD to prevent life-threatening outcomes.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Genetics
Background:
- Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Late diagnosis of HD in childhood is uncommon but can lead to severe complications.
Observation:
- A 10-year-old boy with a nine-year history of chronic constipation presented with symptoms of toxic megacolon.
- The patient exhibited severe colonic dilatation and toxemia, indicating a critical condition.
Findings:
- Intraoperative biopsies confirmed the absence of ganglion cells, consistent with Hirschsprung disease.
- Despite surgical intervention (laparotomy with colostomy), the patient's condition deteriorated rapidly.
Implications:
- This case underscores the potential for severe, life-threatening complications from undiagnosed or neglected Hirschsprung disease in children.
- Highlights the need for increased awareness and timely diagnosis of HD, even in atypical late-childhood presentations.
- Emphasizes the critical role of prompt surgical and medical management in preventing mortality associated with Hirschsprung-associated enterocolitis and toxic megacolon.
Abstract:
Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is associated with gross dilatation of the colon and profound toxaemia, the combination being termed toxic megacolon. Because of its relative rarity, we report a case of 10-year-old child who had a history of chronic constipation for nine years. He later developed complications and presented to the emergency department with toxic megacolon, a rare occurrence due to neglected constipation. Though patient's condition was unstable, laparotomy with right transverse colostomy was performed after appropriate intravenous rehydration. The dilated bowel loops were decompressed and intraoperatively multiple site biopsies were done. Histopathological examination of transition zone biopsy revealed absence of ganglion cells suggestive of Hirschsprung disease. But few hours later patient's condition worsened and he succumbed.
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