Peutz-Jeghers syndrome in women with jejunojejunal intussusception and multiple gastrointestinal polyposis: A case...

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by multiple gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and/or a family history of PJS. Intussusception in patient with PJS is a common complication presenting as abdominal pain and a feature of intestinal obstruction secondary to polyps.

A 36-year-old woman presented to the emergency department with bilateral flank pain, melena, and generalized fatigue with multiple, black-pigmented lesions on her lips extending to mucosa of buccal cavity. Contrast-enhanced computed tomography confirmed multiple gastrointestinal polyps with jejuno-jejunal intussusception. Exploratory laparotomy revealed jejuno-jejunal intussusception with multiple pedunculated polyps. Segmental jejunal resection followed by jejunojejunal stapled anastomosis was performed. Histopathological examination revealed a hamartomatous polyp, confirming the diagnosis of PJS.

PJS is a rare autosomal disorder due to a mutation in the tumor suppressor gene STK11, found on chromosome 19p13. The estimated prevalence of PJS ranges between 1 in 8300 and 1 in 280,000. Intussusception is one of the most common complications, occurring in almost half the patients. Surgical resection remains the recommended treatment for rapidly growing polyps associated with intussusception. Screening at regular intervals for early detection of cancers and recurrence of polyps after excision is recommended.

Accurate diagnosis of PJS depends on childhood history, family history, physical examination, endoscopic evaluation, and genetic testing. Their presentation varies, ranging from gastointestinal bleeding to intestinal obstruction brought on by intussusception. Surgical resections remain the recommended treatment in patients with intussusception associated with large and rapidly growing polyps.