Peutz-Jeghers syndrome: variability of gastrointestinal expression at pediatric age.

Authors

  • Ana I Lopes Serviço de Pediatria, Hospital de Santa Maria, Lisboa.
  • Juan Gonçalves
  • Ana M Palha
  • Fátima Furtado
  • António Marques

DOI:

https://doi.org/10.20344/amp.1121

Abstract

Peutz-Jeghers syndrome is a rare autosomal dominant condition, characterized by gastrointestinal polyposis, mucocutaneous pigmentation and high risk of neoplasia in multiple organs. At pediatric age, major clinical impact is related to complications associated to intestinal polyps, but neoplasic risk isn't negligible. Though clinical surveillance is recommended since the age of 10 years, relevant lesions may occur before that age. Conventional radiology and endoscopy have recognized limitations at this age group, and new diagnostic and intervention tools, such as video-capsule and per-operative enteroscopy, are not yet widely used. We present 5 pediatric cases (age under 10 years) with diversity of gastrointestinal expression (including one case with histologic evidence of dysplasia in a large colonic polyp), emphasizing the need of specific guidelines concerning young children.

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How to Cite

1.
Lopes AI, Gonçalves J, Palha AM, Furtado F, Marques A. Peutz-Jeghers syndrome: variability of gastrointestinal expression at pediatric age. Acta Med Port [Internet]. 2004 Dec. 31 [cited 2024 Feb. 25];17(6):445-50. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/1121

Issue

Section

Arquivo Histórico