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Intussusception in the Setting of Tuberous Sclerosis Complex
Alex Zhornitskiy1, Neil B Marya2, James H Tabibian3
1Department of Internal Medicine, Olive View-UCLA Medical Center, Sylmar, CA.
ACG Case Reports Journal
|December 14, 2019
Summary
Tuberous sclerosis complex (TSC) is rarely associated with adenocarcinoma. This case highlights a unique instance of invasive adenocarcinoma triggering intussusception in an adult with TSC, emphasizing the need for vigilance.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder.
- Intussusception is rare in adults and often associated with malignancy.
- Adenocarcinoma is an uncommon complication in adults with TSC.
Observation:
- A 53-year-old male with TSC presented with acute right lower quadrant pain.
- Imaging revealed ileocolonic intussusception and a cecal mass.
- Colonoscopy identified a cecal lesion, initially concerning for adenoma or hamartoma.
Findings:
- Biopsies confirmed villous adenoma, but surgical resection revealed invasive adenocarcinoma.
- The cecal adenocarcinoma was identified as the cause of intussusception.
- This represents a rare presentation of adenocarcinoma in an adult with TSC.
Implications:
- Adult intussusception warrants a high degree of suspicion for underlying malignancy.
- This case underscores the importance of considering rare cancer associations in genetic syndromes like TSC.
- Routine colon cancer surveillance is planned post-hemicolectomy for this patient.
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