Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity

Abstract

Peutz-Jeghers syndrome is an autosomal dominant inherited medical condition characterized by hyperpigmented mucocutaneous macules, hamartomatous polyps in the digestive tract, and with a greater risk of gastrointestinal and non-gastrointestinal cancers. In fact, without appropriate medical surveillance, the lifetime risk for all cancers combined may be as high as 93%. The syndrome is rare, with estimates of incidence varying between 1 in 8,300 and 1 in 280,000 live births. Infrequently, individuals present for the first time with bowel obstruction secondary to intussusception. Here, we present an interesting case of a young Burmese man who, early on, showed traits of Peutz-Jeghers syndrome, including the characteristic hyperpigmented areas on the fingers and lips. Unfortunately, the diagnosis was not made until he later developed bowel obstruction caused by an intussusception, requiring exploratory laparoscopic bowel resection. A high index of suspicion is needed to diagnose accurately. However, early identification and close surveillance can lead to excellent prognosis in these individuals.




Gastroenterol Res. 2018;11(2):150-153
doi: https://doi.org/10.14740/gr964e