Diagnostic and therapeutic aspects of Peutz-Jeghers syndrome in children

作者：Gastineau S; Caldari D; Maurage C; Darviot E; Dabadie A^*

来源：Acta Endoscopica, 2011, 41(2): 55-61.

DOI：10.1007/s10190-011-0149-9

• Peutz-Jeghers syndrome
• Child
• Endoscopy
• Video-capsule endoscopy

To describe the diagnostic circumstances, outcome and management of Peutz-Jeghers polyposis in children.
Retrospective analysis of 25 cases. Diagnosis of at least one hamartomatous polyp associated with 2 of the 3 following criteria: family history, mucocutaneous pigmentation, small bowel polyps and/or STK11 gene mutation identification.
Diagnosis based upon clinical criteria 21 times, median age of 8.2 years, by revealing acute intestinal intussusception (II) in 13 cases (2.8 to 15.1 years). Genetic analysis was positive in 16/18 cases. During follow-up (median 4.6 years), 15 children had an II. Sixty upper gastrointestinal endoscopies and 51 colonoscopies revealed polyps in 85% and 80% of cases, with polypectomy in 62% and 70%. Twenty-one video-capsule endoscopies revealed bowel polyps 18 times. Seven children had double-balloon endoscopy with polypectomy. Eighteen patients underwent 29 surgeries with intra-operative enteroscopy 12 times and bowel resection 18 times.
The risk of II and resection is high and early. Management by systematic endoscopic examination could reduce this risk. A prospective study will only validate the recommended age to start this endoscopy survey.

• 出版日期2011-3