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Unexpected Peutz-Jeghers syndrome in an adult presenting with intermittent upper intestinal obstruction. A case

Paula Szanto1, Valentina Barbieru2, Radu Badea3

  • 1Department of Gastroenterology, Regional Institute of Gastroenterology and Hepatology Prof. Dr.Octavian Fodor; 3rd Medical Clinic, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. valentina.barbieru@yahoo.com.

Journal of Gastrointestinal and Liver Diseases : JGLD
|April 2, 2014
PubMed

Insights

Peutz-Jeghers syndrome, an inherited disorder, presents with gastrointestinal polyps and pigmentations. This case highlights atypical presentations and diagnostic challenges of this hamartomatous polyposis syndrome.

Area of Science:

  • Genetics
  • Gastroenterology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder.
  • It is classified under hamartomatous polyposis syndromes.
  • PJS is characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentations.

Observation:

  • A case of an adult patient with an atypical form of Peutz-Jeghers syndrome is presented.
  • The patient exhibited features that deviated from the classic PJS phenotype.
  • This atypical presentation underscores the variability in disease manifestation.

Findings:

  • The study emphasizes the diverse range of phenotypes associated with Peutz-Jeghers syndrome.
  • Diagnostic difficulties arise due to the atypical clinical presentation.
  • Recognition of varied phenotypes is crucial for timely diagnosis.

Implications:

  • This report highlights the importance of considering PJS even in atypical cases.
  • It stresses the need for comprehensive diagnostic approaches for hamartomatous polyposis syndromes.
  • Understanding diverse phenotypes aids in early detection and management of PJS.

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