Peutz-Jeghers syndrome: capsule endoscopy to stage disease

Abstract

A 13-year-old girl with recurrent abdominal pain and rectal bleeding was referred to our department. Her 36-year-old father had been diagnosed with Peutz-Jeghers syndrome (PJS) after previous surgical interventions for intestinal occlusion. On physical examination, she had hyperpigmented macules on her lips and buccal mucosa. Genetic testing showed a mutation in exon 6 of the gene STK11. A video capsule endoscopy was done to stage the disease. A 7 mm polyp in the stomach (figure A; video 1), and a 12 mm pedunculated polyp in the proximal jejunum, were seen (figure B; video 2).