Case 1 is an 84-year-old Japanese man with previous medical history of hypertension, chronic hepatitis C infection, idiopathic thrombocytopenic purpura and colon polyps (tubular adenoma and tubulovillous adenoma). He had no mucocutaneous pigmentation or family history of PJS. An upper gastrointestinal endoscopy revealed a lobular polyp measuring 14 mm in diameter, in the superior duodenal angle (Figure ). Endoscopic mucosal resection was performed without complication and histological examination showed findings suggestive of a hamartomatous polyp--branching bundles of smooth muscle fibers covered by hyperplastic duodenal mucosa--with a focus of well-differentiated adenocarcinoma (Figure ). A colonoscopy and small-intestinal follow-through showed no other polyps.
An 8-year-old boy was referred with four episodes of melena over the past 10 months, fatigability and refractory anemia. There was no history of abdominal pain, loss of weight/appetite, or drug intake. There was no history suggestive of bleeding dyscrasia or family history suggestive of PJ syndrome. On clinical examination, pallor was noted without perioral mucocutaneous pigmentation. Abdominal examination was normal. All hematological and biochemical investigations were within normal limits, except for hemoglobin of 6.5 g/dL, and stool examination positive for occult blood. Ultrasonography of the abdomen, upper and lower gastrointestinal (GI) endoscopy, and Tc99m Meckel's isotope scan were normal. Capsule endoscopy visualized an approximately 2 cm × 2 cm, single, sessile, submucosal polypoidal lesion in the small bowel. Contrast-enhanced computerized tomography (CECT) enteroclysis done a few days later showed small bowel intussusceptions. On laparoscopy, a 20 cm long jejunojejunal intussusception starting 10–15 cm from the duodenojejunal flexure was seen. This was reduced laparoscopically. An intraluminal mass could be appreciated in this segment. No other abnormality was detected. The involved bowel was delivered through the umbilical camera port incision [] and resection anastomosis performed. The histopathological examination of the polyp was suggestive of a PJ polyp []. There were areas of pseudoinvasion in the lamina, submucosa, and muscularis propria.\nHe had an uneventful postoperative period. Although we could not do a specific chromosomal analysis on the patient for PJ syndrome, a family screening was negative. There was no family history of cancers in the GI tract or elsewhere. At 3-year follow-up, he remains asymptomatic with no manifestations of PJ syndrome.