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Peutz-Jeghers syndrome: an unusual cause of recurrent intussusception in a 7-year-old boy

Sinan Kılıç1, Ahmet Atıcı1, Özlem Soyköse-Açıkalın2

  • 1Departments of Pediatric Surgery, Aksaray Government Hospital, Aksaray, Turkey.

The Turkish Journal of Pediatrics
|June 17, 2017
PubMed

Insights

Peutz-Jeghers syndrome (PJS) can present with recurrent intussusception in children, even with normal endoscopy. This case highlights PJS as a critical diagnosis for unexplained intussusception.

Area of Science:

  • Genetics and Hereditary Diseases
  • Pediatric Gastroenterology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an inherited disorder associated with hamartomatous polyps and increased cancer risk.
  • Common PJS symptoms in children include abdominal pain, obstruction, and bleeding from polyps.
  • Intussusception is a known PJS complication, but recurrent episodes with normal endoscopy are rare.

Observation:

  • A 7-year-old boy experienced recurrent intussusception episodes.
  • Gastrointestinal endoscopy revealed no abnormalities.
  • Histopathological confirmation post-surgery identified Peutz-Jeghers syndrome.

Findings:

  • Recurrent intussusception can be an early, uncommon presenting sign of PJS in pediatric patients.
  • Normal endoscopic findings do not exclude PJS in cases of unexplained intussusception.
  • Surgical intervention and histopathology were crucial for diagnosing PJS.

Implications:

  • Highlights the importance of considering PJS in pediatric patients with recurrent intussusception, even without typical endoscopic findings.
  • Emphasizes the need for thorough investigation and potential genetic screening for PJS in such cases.
  • Informs clinical management strategies for PJS, focusing on early diagnosis and potential complications like recurrent intussusception.

Keywords:
Peutz-Jeghers syndromecancerchildintussusception

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