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Peutz-Jeghers syndrome associated with intestinal intussusception: a case report

Takamitsu Sasaki1, Daisuke Fukumori, Masayuki Sato

  • 1First Department of Surgery, Fukuoka University, School of Medicine, Fukuoka, Japan. takamitu@fc4.so-net.ne.jp

International Surgery
|February 11, 2003
PubMed

Insights

A 12-year-old boy with Peutz-Jeghers syndrome (PJS) presented with severe abdominal pain due to intestinal invagination caused by a hamartoma. Surgical resection of the hamartoma resolved the acute symptoms, highlighting PJS management needs.

Area of Science:

  • Gastroenterology
  • Pediatric Surgery
  • Clinical Genetics

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
  • PJS is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract.
  • These polyps increase the risk of complications like intussusception and gastrointestinal cancer.

Observation:

  • A 12-year-old boy presented with acute severe upper abdominal pain and vomiting.
  • Physical examination revealed marked abdominal tenderness and a palpable abdominal mass.
  • Abdominal CT scan demonstrated small intestinal intussusception.

Findings:

  • Emergency laparotomy revealed 30 cm of intussuscepted small intestine.
  • A 10 cm segment of small intestine containing a resected mass was removed.
  • Histopathology confirmed the mass as a hamartoma.
  • The patient was diagnosed with Peutz-Jeghers syndrome (PJS) due to characteristic oral and skin pigmentation.

Implications:

  • Hamartomas in PJS can lead to life-threatening intussusception in children.
  • Early diagnosis and surgical intervention are crucial for managing acute complications.
  • Long-term surveillance is necessary for PJS patients to monitor for polyps and associated cancers.

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