4) Peutz-Jeghers Syndrome Presenting with severe Anemia: A Case Report

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by mucocutaneous pigmentation and hamartomatous polyps, primarily in the gastrointestinal tract. The syndrome is associated with complications such as gastrointestinal bleeding, intestinal intussusception, and an increased risk of malignancies both within and outside the gastrointestinal tract. We report a case of a 12-year-old boy with PJS who had no family history of the condition and was admitted for blood transfusion due to severe anemia. Clinical examination revealed muco-cutaneous pigmentation, and upper GIT (gastrointestinal tract) endoscopy identified multiple polyps, confirming the diagnosis of PJS. This case highlights the importance of doing gastrointestinal tract upper GIT endoscopy in children with unexplained severe anemia associated with muco-cutaneous pigmentation may serve as a crucial diagnostic clue for PJS.