Evaluation of Our Pediatric Cases with Peutz-Jeghers Syndrome; Experience of Ondokuz Mayis University

Abstract

Objective: Peutz-Jeghers syndrome is a disease characterized by melanotic macules on the lips and the mucous membranes and polyposis in the gastrointestinal tractus. This condition which is known to be diagnosed around 20 years of age can appear with recurrent abdominal pain and cause more insidious symptoms as refractory iron deficiency anemia in early childhood. In this report, we aimed to share our experiences on the application complaints, diagnosis and therapeutic monitorization of our patients who were followed up with diagnosis of Peutz-Jeghers syndrome in childhood. Material and Methods: Admission complaints, clinical, laboratory, endoscopic and histopathological findings and data of monitorization of five patients with Peutz-Jeghers syndrome were evaluated. Results: Mean age of application to our hospital was 7.3 +/- 3 (2.5-10) years. First application complaints were abdominal pain in all of the patients(100%), acute abdomen in two patients (invagination) (40%) and anemia-pallor in three patients (60%). All of the patients had hyperpigmented maculee on the lips and a positive family history. Hamartomatous polyps were detected in jejunum (100%), stomach (80%), rectum (60%) and duodenum (20%). Conclusion: Questioning of family history in terms of polyposis and suggestion of Peutz-Jeghers Syndrome in differential diagnosis of children with refractory iron deficiency anemia and recurrent abdominal pain would be beneficial for the diagnosis and follow-up of these patients and the other family members with the disease.