A 5 year old, Filipino, female came into the ER with progressive abdominal pain and bilious vomiting. Physical examination of the abdomen revealed a soft, palpable mass. Incidentally she had hyperpigmented macules on the lips. Scout film of the abdomen revealed a large homogeneous ovoid opacity in the central abdomen with peripherally displaced gas-filled distended small bowel loops. Further investigation with contrast-enhanced CT scan demonstrated small bowel obstruction secondary to intussusception in the area of the jejenum. No discrete lead point was identified at that point. There was also note of gastric polyps. Surgical intervention revealed that the lead point of the intussusceptum were jejunal polyps which produced approximately 100 cm of gangrenous small bowel. Histologic examination of the gastric and jejunal polyps were compatible with Peutz-Jegher type of polyp with characteristic arborizing network of lamina propria and smooth muscle. The patient had no known family history of Peutz-Jegher syndrome (PJS) but fulfilled the clinical criteria of having histologically confirmed PJ polyps with mucocutaneous pigmentation. Patient improved and was eventually sent home.
PJS is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the GI tract and mucocutaneous hyperpigmented macules. It is linked to a mutation of the STK11 gene. PJS patients have an increased risk for GI and extra-gastrointestinal cancer. Prevalence rate is 1/100,000 equally affecting males and females without ethnic predominance. Polyps occur in over 90% of PJS individuals, with median age of first presentation at approximately 11-13 years (Giardiello, 2006). During this time, transient intussusception, small-bowel obstruction and bleeding are common complications. Intussusception occurs in up to 69% of PJS patients, most often in the small bowel (60-90% of polyp occurrence) (Utsunomiya, 1975). Because of risk for bowel obstruction, intussusception and development of cancer, PJS patients are placed under close surveillance.