A 24-year-old Caucasian man presented with an acute onset of melaena to the Emergency Department of our hospital. He had no abdominal pain, or history of change in bowel habit or any significant loss of weight or appetite. He was previously healthy and took no regular medications. He had no family history of gastrointestinal disorders. Our patient was also a non-smoker and had no history of illicit drug use.\nUpon admission, he was hypotensive and tachycardic. However, abdominal examination was completely unremarkable. Rectal examination revealed black tarry stool. Multiple dark pigmented patches were noted on the buccal mucosa of our patient. Laboratory tests revealed microcytic, hypochromic anaemia with a haemoglobin of 7.6 gm%. Blood urea was elevated at 12 mmol/litre. Initial assessment showed no other abnormalities.\nHe was resuscitated and required transfusion of six units of blood. Urgent upper gastrointestinal endoscopy revealed polyps in the stomach and duodenum, but no active bleeding sites were found. The presence of buccal pigmentation and multiple polyps on endoscopy suggested a diagnosis of PJS. A computed tomography (CT) scan of the abdomen of our patient was therefore performed. This confirmed multiple small bowel intussusceptions. (Figure )\nUrgent laparotomy was undertaken on our patient and the intussusceptions were reduced. Through enterotomies, eight polyps were removed from the affected segment of the gut. The affected segment of gut was found to be viable. He had a fairly uneventful recovery with no further bleeding. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborisation, compatible with Peutz Jeghers polyps. No features of pseudo-invasion were noticed in any of the polyps. (Figure )
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.