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

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.

Recurrent small intestine intussusception in a patient with Peutz-Jeghers syndrome

“…In PJS the polyps grow in a very young age and the majority of patients become symptomatic during the first three decades of life (2,3). The most common clinical presentation is obstruction and occult gastrointestinal bleeding (2).…”

“…The most common clinical presentation is obstruction and occult gastrointestinal bleeding (2). Intussusception is the most frequent complication (47%) and in 95% of the cases it occurs is the small intestine (3).…”

“…Intussusception should be reduced and followed by polypectomy (1,2). Because of the recurrence rate small bowel resection should be avoided unless absolutely necessary (2,4) in order to avoid short bowel syndrome and malabsorption (5).…”

“…Peutz-Jeghers syndrome is a rare hereditary autosomal dominant disease (1) with a reported incidence of 1 per 120,000 to 1 per 200,000 live births (1,2). It is characterized by the presence of extensive mucocutaneous pigmentation, especially of the lips in 94% of the patients and also buccal mucosa (66%), hands (74%) and feet (62%) (3) and the occurrence of hamartomatous polyps throughout the digestive tract (1)(2)(3).…”

“…It is characterized by the presence of extensive mucocutaneous pigmentation, especially of the lips in 94% of the patients and also buccal mucosa (66%), hands (74%) and feet (62%) (3) and the occurrence of hamartomatous polyps throughout the digestive tract (1)(2)(3). Gastrointestinal hamartomas occur predominantly in the small intestine (78%), especially the jejunum, but also frequently in the colon (42%), stomach (38%) and rectum (28%) (1).…”