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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Sporadic Case of Peutz-Jeghers Polyp in a 14-Year Boy

Naheed Sultan1, Rabbiya Ali1

  • 1Department of Surgical I, Dow University of Health Sciences, Civil Hospital, Karachi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|July 2, 2017
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and characteristic pigmentation. This report details a unique sporadic case in a 14-year-old boy presenting with intussusception and bleeding, highlighting diagnostic challenges.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatric Medicine

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
  • PJS typically presents with a strong family history, abdominal pain, rectal bleeding, and characteristic pigmentation around the lips, buccal mucosa, and anal area.

Observation:

  • A 14-year-old boy presented with intussusception and rectal bleeding, symptoms attributed to jejunal and rectal hamartomatous polyps.
  • Despite classical mucocutaneous pigmentation, the patient had no family history of PJS or polyps, suggesting a sporadic presentation.

Findings:

  • The intussusception required surgical resection and anastomosis due to vascular compromise.
  • A rectal polyp was successfully removed via colonoscopy.
  • The case represents a rare instance of sporadic Peutz-Jeghers polyp (PJP) in early adolescence.

Implications:

  • This case underscores the importance of considering sporadic PJS in pediatric patients with unexplained gastrointestinal bleeding and intussusception, even without a family history.
  • Early diagnosis and management of PJP are crucial to prevent complications such as intussusception and potential malignant transformation.
  • Highlighting rare presentations of PJS aids in refining diagnostic criteria and treatment strategies for this uncommon disorder.

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