Intussusception in the adult: an unsuspected case of Peutz-Jeghers syndrome with review of the literature.
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 . 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.
Adult; Cell Transformation, Neoplastic; Genetic Predisposition to Disease; Hamartoma; Humans; Intussusception; Neoplasms; Peutz-Jeghers Syndrome; Precancerous Conditions; Treatment Outcome
Genetic predisposition; Precancerous conditions
Fraser, J. D., Briggs, S. E., St Peter, S. D., De Petris, G., Heppell, J. Intussusception in the adult: an unsuspected case of Peutz-Jeghers syndrome with review of the literature. Familial cancer 8, 95-101 (2009).