INTRODUCTION: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder associated with mucocutaneous hyperpigmentation and hamartomatous gastrointestinal polyps. Here, we present a case of PJS presenting as abdominal pain due to recurrent intussusception in a patient without family history of gastrointestinal conditions. CASE DESCRIPTION/METHODS: A 28-year-old African American female with a remote history of intussusception and small bowel resection presented with 5 days of epigastric pain. An EGD and colonoscopy from years prior reportedly revealed multiple benign polyps. There was no family history of PJS, gastrointestinal, ovarian, or endometrial cancer. On exam, right lower abdomen was tender and oral mucosa revealed hyperpigmentation. Labs were notable for iron deficiency anemia with a hemoglobin of 8.3 g/dL. Abdominal CT revealed a left lower quadrant enteroenteric intussusception with a 2.3 cm small bowel tumor functioning as a lead point and a 3 cm cecal mass. Retrograde enteroscopy to evaluate the small bowel tumor revealed ileal nodules, no intraluminal cecal mass, and 2 ileal polyps that were resected. Pathology showed polypoid fragments of ileal mucosa with marked submucosal lymphoid aggregates. Upright abdominal Xray was obtained for worsening abdominal pain and peritoneal signs, which showed an air fluid level in the small bowel, concerning for obstruction. She underwent a diagnostic laparoscopy revealing a cecal mass and ileal intussusception. She had an ileocecectomy and small bowel resection with a large polypoid mass in the resected ileum. Histology of the cecal mass revealed a cystic nodule of benign small bowel mucosa and the ileal polypoid mass demonstrated a hamartomatous polyp with ectopic extension into the muscularis propria, suggestive of PJS. Subsequent STK11 gene analysis revealed an exonic deletion, confirming the diagnosis. DISCUSSION: Up to 69% of patients with PJS experience intussusception. The risk of intussusception reaches 50% by age 20 in these patients. Although the association of PJS with intussusception is well-known due to polyps functioning as lead points, PJS is rarely diagnosed on recurrence of intussusception. Endoscopic polyp removal is recommended in these patients to avoid complications of surgery but surgical resection remains the definitive treatment in most cases. Recurrent intussusception in adult patients is a finding that should elicit consideration of PJS in patients with a history of polyps and no significant family history.
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