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Intussusception in Peutz-Jeghers Syndrome: Management of Unusual Acute Abdominal Presentation

Himanshu Sharma1, Deepika Kaushik2

  • 1Department of Surgical Oncology, Tata Medical Center, Newtown, Kolkata India.

Indian Journal of Surgical Oncology
|July 5, 2022
PubMed

Insights

Peutz-Jeghers syndrome (PJS) presents with hamartomatous polyps and skin pigmentation. This report details two emergency cases of PJS, highlighting the need for vigilant monitoring and screening for associated cancers.

Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • It is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation.
  • PJS significantly increases the risk of various gastrointestinal and extraintestinal malignancies.

Purpose of the Study:

  • To report two unusual emergency presentations of PJS.
  • To emphasize the diagnostic challenges in sporadic cases.
  • To underscore the importance of early detection and management of PJS.

Main Methods:

  • Case report of two patients presenting with acute abdominal emergencies.
  • Histopathological examination of polyps revealing hamartomatous features.
  • Clinical assessment for characteristic PJS manifestations.

Main Results:

  • Two patients, without a family history, presented with PJS-related emergencies: bowel perforation and bowel gangrene due to intussusception.
  • Histology confirmed hamartomatous polyposis.
  • Clinical features supported the diagnosis of PJS.

Conclusions:

  • PJS can present acutely, even without a known family history.
  • Aggressive screening and close monitoring are crucial for PJS patients.
  • Early detection of malignancies in PJS is vital due to elevated cancer risk.

Keywords:
GangreneHamartomatousMalignancyMucocutaneousPeritonitis

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