Follow‐up and Surgical Management of Peutz‐Jeghers Syndrome in Children

• Published in: Journal of pediatric gastroenterology and nutrition Vol. 48; no. 4; pp. 419 - 425
• Main Authors: Vidal, Isabelle, Podevin, Guillaume, Piloquet, Hugues, Le Rhun, Marc, Frémond, Benjamin, Aubert, Didier, Leclair, Marc‐David, Héloury, Yves
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins, Inc 01-04-2009; Lippincott Williams & Wilkins
• Subjects: Adolescent; Biological and medical sciences; Capsule Endoscopy; Child; Dermatology; Digestive system. Abdomen; Endoscopy; Endoscopy, Gastrointestinal; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; Humans; Intestinal Polyps - complications; Intestinal Polyps - genetics; Intestinal Polyps - surgery; Intraoperative endoscopy; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Mutation; Peutz-Jeghers Syndrome - complications; Peutz-Jeghers Syndrome - diagnosis; Peutz-Jeghers Syndrome - surgery; Peutz‐Jeghers syndrome; Pigmentary diseases of the skin; Protein-Serine-Threonine Kinases - genetics; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Videocapsule endoscopy; Young Adult; Human; Skin disease; Pigmentation disorder; Lentiginosis; Metabolic diseases; Intraoperative; Polyposis; Peutz-Jeghers syndrome; Genetic disease; Treatment; Intraoperative endoscopy-Peutz-Jeghers syndrome-Videocapsule endoscopy; Capsule endoscopy; Surgery; Gastroenterology; Digestive diseases; Benign neoplasm; Child
• DOI: 10.1097/MPG.0b013e318180af62
• EISSN: 1536-4801
• ISSN: 0277-2116

ABSTRACT
Background:
Peutz‐Jeghers syndrome (PJS) is an autosomal dominant syndrome with an increased risk of polyposis complications and intestinal and extraintestinal tumours.
Methods:
During the last 15 years, we reviewed a series of 11 children with PJS, with special attention to evolution and follow‐up. Diagnosis was based on at least 1 hamartomatous polyp associated with 2 of the 3 following criteria: family record of PJS, polyposis localised on small bowel, and mucocutaneous pigmentation. Diagnosis of PJS also could be raised by a single genetic analysis of STK11 gene.
Results:
Median age at beginning of symptoms was 6 years old. Seven of the 11 children had genetic tests, which were positive for STK11 gene mutation. Among the 10 children presenting with gastrointestinal complications, 8 were operated on, 6 had at least 1 small bowel resection, and 4 had repeat surgery for recurrent intussusceptions. In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. To prevent any polyposis complications, we suggest a complete check‐up of polyposis topography with some of the new endoscopic tools, either double‐balloon endoscopy or videocapsule endoscopy.
Conclusions:
Children with PJS have a high risk of numerous laparotomies due to polyps' complications. Therefore, a screening of intestinal polyposis by videocapsule endoscopy is recommended, as well as a screening of the most frequent sites of cancers for the patient's whole life. During any abdominal procedure, they should have an intraoperative endoscopy, this management allowing an increased time interval between 2 laparotomies.