A Case of Juvenile Polyposis Syndrome With the Intussusception in the Small Bowel

Abstract

Most cases of intussusception are idiopathic, but some involve underlying organic bowel lesions. The patient was a 15-year-old girl presenting to the emergency department with abdominal pain. Abdominal contrast-enhanced CT revealed small bowel intussusception with a mass lesion at the invaginated end, along with a pulmonary arteriovenous fistula and multiple mass lesions in the small bowel without intussusception. Single-port laparoscopically assisted reduction of the intussusception and biopsy were performed. The polyps were histopathologically confirmed to be juvenile. Additional investigations, including genetic testing, led to a final diagnosis of juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia. Juvenile polyposis carries a high risk for malignancy, necessitating regular surveillance. Patients with SMAD 4 mutations are reported to have an increased risk of vascular lesions. Cases of juvenile polyposis syndrome presenting with small bowel intussusception are rare, but the diagnosis enabled appropriate surveillance. Small bowel polyps can cause recurrent intussusception. Therefore, once juvenile polyposis syndrome is diagnosed, endoscopic polypectomy should be performed as early as possible.