AI Article Synopsis

  • Peutz-Jeghers syndrome is a rare hereditary condition marked by intestinal polyps and pigmented lesions in the mouth, highlighting the need for cooperation among medical specialists for proper diagnosis and treatment.
  • A case involving a 15-year-old Afghan girl with persistent gastrointestinal symptoms led to the discovery of hamartomatous polyps through a polypectomy, ultimately diagnosing her with the syndrome after thorough investigation.
  • Effective management includes regular monitoring and timely removal of polyps, with ongoing research necessary to better comprehend and treat this uncommon condition.

Article Abstract

Background: Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies.

Case Description: We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well.

Conclusion: Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10913253PMC
http://dx.doi.org/10.1186/s13256-023-04335-9DOI Listing

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