Introduction Children with Peutz-Jeghers syndrome (PJS) are at high risk of intussusception and bowel resection from small intestinal polyp formation. Little data has been published on early warning signs and prevention. We contributed to recent ESPGHAN guidelines, which recommend to start screening investigations from the age of 8 years in 3-yearly intervals. In spite of meticulous endoscopic and imaging screening, three of our patients developed intussusceptions.

Aim

1. To identify patient characteristics and polyp features in PJS patients with intussusceptions compared to patients without this complication.

2. To review if a more cautious surveillance protocol may be beneficial for children with PJS considered being at increased risk.

Subjects and Methods All patients were confirmed to have PJS by genetic analysis (STK 11 mutation).

Patient A underwent endoscopic surveillance every 2–3 years. At 9 years video capsule endoscopy (VCE) revealed one stalked small polyp and some areas of fresh blood in the small bowel, so double-balloon-enteroscopy (DBE) performed and two polyps removed. 4 years later the patient presented with sharp abdominal pain for two weeks associated with a mass in LIF, reduced appetite and required semi-urgent laparoscopic resection.

Patient B was diagnosed de novo at the age of 11 years due to lip and mucosal freckling. In addition to upper and lower GI endoscopy, small bowel imaging was booked but patient did not adhere to recommendations. Following pathological VCE, urgent booking for DBE was made but postponed by the family. The child presented then acutely with small bowel intussusception, underwent an urgent laparotomy and resection.

Patient C was diagnosed at the age of 8 years, presenting with anaemia, acute abdominal pain and non-bilious vomiting. An urgent ultrasound abdomen revealed small bowel intussusceptions, leading to laparotomy and resection. Intraoperative enteroscopy was performed with removal of two further polyps 10-15 cm from the resected bowel.

ResultsReview of 7 PJS patients without intussusceptions during the same 10 year period did not demonstrate significant differences in age of presentation, presence of polyps in stomach, or duodenum. Regarding small intestinal polyp formation, 2 of control patients had small intestinal polyps, one of them referred for DBE and the other one did not require DBE resection.

Summary and Conclusion

1. In our cohort of children with PJS, presence of small intestinal polyps was the only risk factor for intussusceptions. Intussusceptions occurred in 5/10 of all children with small intestinal polyps.

2. Dynamics of small intestinal polyps appear variable, but occurred earlier or in shorted intervals than recommended by ESPGHAN guidelines.

3. Although small bowel investigations can be difficult for some children with PJS, we recommend that they should be performed not later than 8 years of age. Due to absence of early warning signs for intussusceptions, if small intestinal polyps are found, small bowel imaging under optimal imaging conditions should be repeated annually and also immediately when children are symptomatic.

4. Centres are encouraged to enroll patients in the upcoming ESPGHAN polyposis group PJS registry.