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.

Clinical Case Reports
|September 30, 2022
PubMed

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.

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