Title

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

Document Type

Article

Publication Date

1-1-2009

Identifier

DOI: 10.1007/s10689-008-9212-x

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.

Journal Title

Familial cancer

Volume

8

Issue

2

First Page

95

Last Page

101

MeSH Keywords

Adult; Cell Transformation, Neoplastic; Genetic Predisposition to Disease; Hamartoma; Humans; Intussusception; Neoplasms; Peutz-Jeghers Syndrome; Precancerous Conditions; Treatment Outcome

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