Jejunal Adenomatous Polyp Presenting as Intussusception in Peutz-Jeghers Syndrome With von Hippel-Lindau (VHL) Mutation Carrier Status.

Authors

Kyra Salinkas, Sabeen Wazir, Madeline Keen, Lance Albin

Published in

Cureus. Volume 18. Issue 6. Pages e111165. Epub Jun 19, 2026.

Abstract

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant condition characterized by hamartomatous polyps in the gastrointestinal (GI) tract and mucocutaneous hyperpigmentation involving the lips, oral mucosa, and hands. Patients with PJS are at an increased risk for intussusception, causing small bowel obstruction (SBO), a surgical emergency. A 29-year-old female presented to the emergency department (ED) with stabbing left lower back pain that began the previous night and progressively worsened, accompanied by nausea. Her medical history was significant for PJS, von Hippel-Lindau (VHL) mutation carrier status, prior SBO requiring surgical resection at 14 years of age, recurrent left lower quadrant (LLQ) intussusception, and rectal bleeding. On physical examination, the patient had LLQ abdominal tenderness and left costovertebral angle tenderness. CT imaging of the abdomen revealed findings concerning for residual or recurrent LLQ intussusception. An exploratory laparotomy was recommended with resection of approximately 20 cm of the jejunum, followed by reconstruction with a stapled side-to-side anti-peristaltic anastomosis. Pathology demonstrated a tubular adenomatous polyp associated with intussusception and ischemic injury with no evidence of malignancy or high-grade dysplasia. This case highlights a unique presentation of a jejunal adenomatous polyp causing intussusception in a patient with PJS. Awareness of this atypical polyp location in a patient with PJS is essential, given its potential for malignancy and implications for management and surveillance. Furthermore, the patient's known status as a VHL mutation carrier emphasizes the importance of comprehensive assessment in patients with overlapping tumor syndromes.

PMID:
42473492
Bibliographic data and abstract were imported from PubMed on 20 Jul 2026.

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