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 [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.
Fraser
Jason D
JD
Department of General Surgery, Mayo Clinic Arizona, Phoenix, AZ 85054, USA. fraser.jason@mayo.edu
Briggs
Steven E
SE
St Peter
Shawn D
SD
De Petris
Giovanni
G
Heppell
Jacques
J
D000328:Adult; D002471:Cell Transformation, Neoplastic; D020022:Genetic Predisposition to Disease; D006222:Hamartoma / Q000209:etiology; D006801:Humans; D007443:Intussusception / Q000235:genetics*; D009369:Neoplasms; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000235:genetics*; D011230:Precancerous Conditions; D016896:Treatment Outcome