A 15-year-old male with Peutz-Jeghers syndrome: a rare case report from Syria

Abstract

Introduction and importance: In addition to extra gastrointestinal hamartomatous polyps, Peutz-Jeghers syndrome (PJS), a rare but well-known hereditary disorder, generates mucocutaneous lesions that resemble certain coloured freckles and gastrointestinal symptoms. Intussusception or polyps blocking the gastrointestinal lumen are examples of PJS consequences. Additionally, the polyps may cause ongoing bleeding that causes anaemia. Case presentation: A 15-year-old male patient with generalized stomach discomfort, frequent vomiting, and decreased appetite reported to the hospital’s ambulance department. A month and a half prior, the patient underwent a surgical laparotomy for intussusception. The clinical examination revealed many pigmentations near the mouth. The specialists decided to do an urgent laparotomy on the patient, during which a 60 mm necrotic intestinal intussusception was observed. The patient had an ileoileostomy and an amputation, and a pathology test discovered numerous benign hamartomatous polyps in the sample.“Putz-Jeghers Syndrome” had been determined to be the ultimate diagnosis. Clinical discussion: It is autosomal dominant and more prevalent in children and teenagers. According to some research, 30% of diseases are passed from parents to children while 70% may result from gene mutations. Conclusion: There is no evidence that the transformation of hamartomatous polyps led to the neoplastic tumours in these patients. It is suggested to carry out a complete screening program and detect PJS early in order to prevent gastrointestinal problems and dangerous malignancies.