Intussusception in the adult: an unsuspected case of Peutz-Jeghers syndrome with review of the literature.

Familial Cancer
Jason D FraserJacques Heppell

Abstract

Peutz-Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz-Jeghers syndrome to portray illuminating features of the syndrome and review the literature.

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Citations

Oct 19, 2011·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·Hong WangXiu-Jie Wang
Feb 26, 2010·Journal of Medical Case Reports·Sayantan BhattacharyaGeorge Mathew
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Jan 23, 2014·Scottish Medical Journal·Onur TutarFatih Kantarci
Apr 3, 2021·BMJ Case Reports·Ankit SahooSwastik Mishra
Dec 4, 2020·Cirugía española·Franco Alejandro CorvattaVirginia Margarita Cano Busnelli
Aug 28, 2021·World Journal of Clinical Cases·Junloong ChiewHans Alexander Mahendran

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