Small Bowel Polyps and Angiodysplasia Discovered by Video-Capsule Endoscopy in a Ten-Year-Old with Peutz-Jeghers Syndrome

Abstract

Case Presentation: Hispanic female presented at age 7 years with chronic abdominal pain and noticed to have melanotic pigmentation of her of lips, oral mucosa, and hands. Upper GI series (UGI) revealed a small ovoid persistent filling defect in the proximal fundus suspicious for a sessile polyp. Small bowel follow-through (SBFT) was normal. At endoscopy, gastritis, three small gastric polyps and one duodenal polyp were identified. Two harmatomatous colonic polyps were removed from the rectosigmoid area at colonoscopy. She did well and was asymptomatic except for a few episodes of blood in her stools. Reevaluation at age ten years. UGIS/SBFT were negative. Colonoscopy discovered a hamartomatous polyp measuring 1.5 cm at the anal verge, and smaller ones measuring 0.3–0.5 mm in the rectum and sigmoid. The cecum and terminal ileum were normal. A M2A video-capsule was delivered via endoscopy into the duodenum, and released from a Roth net. Several polyps measuring approximately 3 mm in diameter were observed in the duodenum and proximal jejunum, as well as multiple (>10) arteriovenous malformations. Numerous polyps (>100) with an average size of 1 mm in diameter were found in the area extending from the mid-jejunum to the distal ileum. The terminal ileum had normal appearing mucosa. Conclusion: Our patient had pigmentation on her lips, hands and buttocks and several gastric, small bowel and colonic lesions which are consistent with Peutz-Jeghers syndrome (PJS). This case seems to be a sporadic mutation as there were no family members with any findings of PJS. The abdominal pain resolved after treatment with acid-suppressive therapy suggesting gastritis and not polyps as the etiology of her symptoms. The most striking findings in this patient were the multiple arteriovenous malformations (AVM) throughout the small bowel and numerous small bowel polyps discovered by video-capsule. The previous endoscopic evaluations and ragiography, failed to detect these AVM. Upper intestinal endoscopic evaluations and enteroscopy are limited due to the length of the small bowel, therefore distal areas cannot be reached. Polyps as well as AVM in these distal regions will be undetected by routine endoscopy, enteroscopy as well as by radiography as evidenced in this case. With the introduction of the video-capsule methodology the entire small bowel can be examined and, as application increases, AVM's may be discovered more frequently as an associated finding of PJS.