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Pseudo and true Hirschsprung's disease in one family
Insights
This case study presents an adult woman with pseudo-Hirschsprung's disease, a rare condition. A Duhamel procedure successfully treated her chronic constipation and abdominal distention.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Colorectal Surgery
Background:
- Pseudo-Hirschsprung's disease typically presents in infancy.
- Adult presentations are exceptionally rare, making diagnosis and management challenging.
- This case highlights the variability in clinical manifestation and age of onset.
Purpose of the Study:
- To report a unique case of pseudo-Hirschsprung's disease in an adult.
- To discuss the diagnostic criteria and treatment challenges in adult pseudo-Hirschsprung's disease.
- To emphasize the importance of considering rare conditions in adult patients with chronic constipation.
Main Methods:
- Clinical case presentation of a 35-year-old woman.
- Diagnostic evaluation including physical examination and assessment of anosphincteric reflex.
- Surgical intervention involving initial bowel resection followed by a Duhamel procedure.
Main Results:
- The patient presented with chronic constipation, abdominal distention, and an adynamic distal colon.
- Initial bowel resection was unsuccessful, leading to small bowel distention.
- A subsequent Duhamel procedure resulted in complete symptom resolution.
- The patient's child was diagnosed with true Hirschsprung's disease, suggesting a potential genetic link.
Conclusions:
- Pseudo-Hirschsprung's disease can manifest in adulthood, contrary to typical presentations.
- The Duhamel procedure is an effective treatment for adult pseudo-Hirschsprung's disease when initial interventions fail.
- The familial occurrence of Hirschsprung's disease warrants further investigation into potential genetic factors in pseudo-Hirschsprung's disease.
Abstract:
A case of a 35-yr-old woman with the characteristics of pseudo-Hirschsprung's disease is presented. The diagnosis was based on the following criteria: a history of chronic constipation since early infancy, a largely distended abdomen and an adynamic distal colon. The patient had a normal anosphincteric relaxation reflex and normal rectal myenteric ganglion cells. Resection of the distended large bowel failed to relieve the symptoms and was followed by distention of the entire small bowel. Complete cure was achieved after a Duhamel procedure. This patient is an adult, unlike the previously reported cases. Of special interest is the occurrence of true Hirschsprung's disease in one of her children.