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Peutz-Jeghers syndrome - Be in need of vigilance: A case report

Vandana S Tomey1, Sudhir Tomey1, Kewal Dhone1

  • 1Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.

Journal of Family Medicine and Primary Care
|January 10, 2025
PubMed

Insights

Peutz-Jeghers syndrome (PJS), an inherited disorder, increases cancer risk and causes hamartomatous polyps. This case highlights PJS diagnosis in a 14-year-old male with characteristic symptoms and genetic links.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder.
  • PJS is characterized by hamartomatous polyps and an increased risk of various cancers.
  • Mutations in the STK11 (LKB1) gene are the primary cause of PJS.

Observation:

  • A 14-year-old male presented with recurrent abdominal pain, vomiting, weight loss, and growth failure.
  • Physical examination revealed characteristic melanin spots on the lips and buccal mucosa.
  • Diagnostic workup included CT scan and endoscopy.

Findings:

  • Clinical history, examination, and imaging confirmed Peutz-Jeghers syndrome.
  • The patient required laparotomy for bowel obstruction due to intussusception and enterotomy for polyps.
  • Histopathology confirmed hamartomatous polyps consistent with PJS.

Implications:

  • Early diagnosis and management of PJS are crucial for preventing complications like intussusception and cancer.
  • Genetic counseling and regular cancer surveillance are essential for PJS patients.
  • This case underscores the importance of recognizing PJS in adolescents with suggestive clinical features.

Keywords:
EnterotomyPeutz–Jeghar syndromehamartomatous polypsintussusceptionmucocutaneous pigmentationmucosal polyps

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