Background and Aims: We reviewed our institution's experience with Peutz-Jegher syndrome (PJS) in children to determine whether current recommendations on timing of screening and follow-up should be modified.
Methods: We reviewed the charts of all of the children with a diagnosis of PJS at our institution from 2000 to 2011 abstracting data on intussusceptions events, polyp characteristics, Sertoli cell (SC) tumors, family history, imaging, and interventions.
Results: Of 14 children identified, 10 were boys. Median age at first clinical evaluation was 4.5 years, and family history and/or mucocutaneous pigmentation were the 2 most common factors stimulating screening. Median age at first screening test was 5 years (range 1–16), and at first polyp identification, 5 years (range 1 to 18). There were 7 intussusception events in 5 children, with median age of 10 and range 5 to 16 for first event. Two boys had SC tumors at 8 and 11 years. Polyps were identified during initial screening in 9 of 14 patients. Polyps were found in the stomach or duodenum in 5 (36%), small bowel in 7, (50%) and colon in 3 (21%) children. Large polyps were identified in 9 children at median age of 7 years.
Conclusions: Polyps causing significant clinical consequences can occur frequently in children with PJS younger than 8 years. Revised guidelines should consider initial screening at age 4 to 5 with capsule endoscopy and upper and lower endoscopy as well as evaluation for SC tumors and re-evaluation whenever symptoms suggest polyp-associated complications.