Intussusception in the Setting of Tuberous Sclerosis Complex

ACG Case Rep J. 2019 Oct 17;6(10):e00244. doi: 10.14309/crj.0000000000000244. eCollection 2019 Oct.

Abstract

A 53-year-old man with tuberous sclerosis complex presented with severe, acute, right lower quadrant pain. The patient was found to have ileocolonic intussusception and a cecal mass on imaging. Diagnostic colonoscopy revealed a 3-cm cecal lesion which was grossly equivocal for hamartoma, adenoma, or other neoplasm, biopsies of which revealed villous adenoma. Given the lesion was believed to represent the trigger point for intussusception, the patient was referred for surgical resection, the histopathology from which the lesion was identified to be invasive adenocarcinoma. The patient underwent hemicolectomy, with plans for routine postoperative colon cancer surveillance. This case is unique because previously published literature has not described adenocarcinoma in an adult with tuberous sclerosis complex and it calls attention to the need to maintain unsuspected cancer high on the differential in adults with intussusception.

Publication types

  • Case Reports