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Total colonic aganglionosis: diagnosis and management in a 12-year-old boy
A Lall1, S Agarwala, V Bhatnagar
1Department of Paediatric Surgery and Radiodiagnosis, All India Institute of Medical Sciences, New Delhi.
Insights
Total colonic aganglionosis (TCA), a rare Hirschsprung
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Total colonic aganglionosis (TCA) is a rare, severe form of Hirschsprung's disease.
- Typically presents in infancy, with rare late-onset cases in childhood or adulthood.
Observation:
- A 12-year-old boy presented with symptoms suggestive of subacute intestinal obstruction.
- Diagnosis was suspected during surgery and confirmed via histological evaluation of biopsy specimens.
Findings:
- The case highlights the possibility of late-onset total colonic aganglionosis.
- Delayed diagnosis can lead to misdiagnosis and unnecessary surgical interventions.
Implications:
- High index of suspicion is crucial for diagnosing rare, late-onset TCA.
- Accurate diagnosis prevents bowel resection and guides optimal surgical management.
- Early and correct diagnosis improves patient outcomes for Hirschsprung's disease variants.
Abstract:
Total colonic aganglionosis (TCA) is an unusual form of Hirschsprung's disease, and most of these present within the first few weeks and nearly all by the end of the first year of life. Very few cases presenting in older childhood or adulthood have been reported. Without a high index of suspicion these cases can easily be missed and, therefore, patients undergo repeated laparotomies for subacute intestinal obstruction without relief of symptoms. The diagnosis is suspected on operative findings and confirmed by histological evaluation of seromuscular biopsy specimens. Proper diagnosis will prevent loss of bowel length caused by inadvertent resection and will help in performing an optimal procedure to treat these patients. Discussed herein is another case of TCA in a 12-year-old boy with review of relevant literature.