A Peutz-Jeghers syndrome case with iron deficiency anemia and jejuno-jejunal invagination

Haci Mehmet Sökmen1, Ali Tüzün Ince, Cengiz Bölükbaş

  • 1Gastroenterology Clinic, Haydarpasa Numune Education and Training Hospital, Istanbul, Turkey. alince@superonline.com

Insights

Peutz-Jeghers syndrome, a rare genetic disorder, causes characteristic pigmentations and precancerous polyps. Early investigation of anemia and ileus is crucial for diagnosing this syndrome.

Area of Science:

  • Gastroenterology
  • Genetics
  • Dermatology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • It is characterized by mucocutaneous pigmentations and hamartomatous polyps in the gastrointestinal tract and other organs.
  • PJS is recognized as a precancerous condition, increasing cancer risk.

Observation:

  • A case report of a young patient presenting with gastrointestinal bleeding.
  • Endoscopic findings revealed multiple polyps in the stomach, jejunum, rectum, and terminal ileum.
  • The patient also exhibited mucocutaneous pigmentations on the lips, buccal mucosa, and nails.

Findings:

  • Jejunal polyps were identified as the cause of jejuno-jejunal intussusception and iron deficiency anemia.
  • Histopathological analysis confirmed hamartomatous polyps consistent with Peutz-Jeghers syndrome.
  • Dermatological consultation supported the diagnosis based on characteristic pigmentations.

Implications:

  • Highlights the importance of considering PJS in patients with unexplained anemia and ileus.
  • Emphasizes the diagnostic value of combined gastrointestinal and dermatological assessments.
  • Underscores the precancerous nature of PJS, necessitating vigilant monitoring and management.

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