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Published on: December 1, 2012
Peutz-Jeghers syndrome revealed by recurrent small bowel intussusceptions in children: A case report
Chtourou Rahma1, Ben Kraiem Najoua1, Zouari Mohamed1
1Department of Pediatric Surgery, Hedi Chaker Hospital University of Sfax Sfax Tunisia.
Insights
Peutz-Jeghers syndrome, a rare condition, can cause life-threatening bowel intussusceptions. This case highlights jejunal polyps as a cause in a young girl, requiring surgical intervention.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Clinical Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
- PJS significantly increases the risk of gastrointestinal cancers and other malignancies.
- Early diagnosis and management are crucial for improving patient outcomes.
Observation:
- A young female patient presented with recurrent episodes of small bowel intussusception.
- Surgical exploration revealed numerous jejunal polyps as the underlying cause of the intussusceptions.
- The polyps were successfully removed through mini enterotomies.
Findings:
- Pathological examination confirmed the presence of hamartomatous polyps consistent with Peutz-Jeghers syndrome.
- The jejunal polyps were identified as the direct cause of the jejunojejunal intussusceptions.
- This case underscores the presentation of PJS in pediatric patients.
Implications:
- This case highlights the importance of considering Peutz-Jeghers syndrome in pediatric patients with recurrent intussusceptions.
- Timely surgical intervention for polyps can prevent complications associated with intussusception.
- Genetic counseling and long-term surveillance are essential for individuals diagnosed with PJS.
Abstract:
Peutz-Jeghers syndrome is a rare but potentially life-threating syndrome. We report here the case of a young girl who presented recurrent small bowel intussusceptions. Laparotomy exploration showed many jejunal polyps leading to jejunojejunal intussusceptions. These were removed via mini enterotomies and pathological examination concluded to Peutz-Jeghers polyps.
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