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Peutz-Jeghers syndrome: case report, review and recommendations for management

Irini Karatsoli, Simona Nizorkova, Ivan Valkadinov, Boris Enikov


Introduction: Peutz-Jeghers syndrome(PJS) is an uncommon autosomal dominant disease in which multiple hamartomatous polyps appear in the gastrointestinal (GI) tract -stomach, small bowel and colon. Affected individuals have melanotic pigmentation around their lips and macules on the buc­cal mucosa (90% of patients).The majority of patients that meet the clinical criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. Most patients have a characteristic clinical course of current episodes of bowel obstruction and bleeding. The disease affects males and females equally. In addition to polyposis, the risk of GI and extra-GI malignancies is significantly increased in PJS patients.

Materials and Methods: The case report describes an 11-year old male patient who is presented clini­cally with Peutz-Jeghers syndrome. He was admitted to the hospital several times with recurrent ep­isodes of colicky abdominal pain, partial intestinal obstructions due to the polyps in the GI tract , colitis and obesitas. The patient underwent an abdominal operation at an emergency basis for intesti­nal obstruction due to intussusception of a small bowel polyp. He underwent an enterectomy with an end-to-end anastomosis and was discharged after that in good general condition.

Results: The patient was treated successfully after every hospitalization. He was discharged from the hospital with instructions for active follow-up and consultation with an endocrinologist because of the obesitas and the glucose intolerance every six months and a gastroenterologist for GI endoscopy once a year.

Conclusion: PJS is a rare autosomal dominant disease defined by the development of characteristic polyps throughout the GI tract and mucocutaneus pigmentation. Patients with PJS are at high risk for GI and non-GI cancers. The management of PJS in light of recent studies and guidelines is discussed. Aggressive screening is recommended.


Peutz-Jeghers syndrome; polyps; pigmentation



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