A 19-year old male Caucasian patient visited the emergency department of our hospital because of melena. He was previously healthy and used no medication but had noticed black stools one week before his visit. There had been no abdominal discomfort, nausea or vomiting. None of his family members had gastrointestinal diseases, and he used no alcohol, did not smoke or use elicit drugs. His occupation is unknown. On physical examination the abdomen was nontender and without palpable masses. Rectal examination revealed black stools. His weight was 62 kg. and his length 1,87 m. Laboratory tests showed an iron deficiency anemia with a hemoglobin concentration of 4.7 mmol/L (normal > 8,5 mmol/L) and a serum ferritin concentration of 4 μg/L (normal > 30 μg/L). Liver function tests, serum creatinine, albumin, CRP and glucose were all normal. Duodenoscopy showed a normal esophageal, gastric and duodenal mucosa without evidence of recent bleeding. A Meckel scan showed no evidence for a Meckel's diverticulum. A small bowel series however, demonstrated a large polyp in the proximal jejunum and possibly a smaller polyp in the distal jejunum (Figure ).\nAs this polyp was the probable cause of the patient's bleeding, a laparotomy with peroperative small bowel endoscopy was performed. Approximately 50 cm beyond Treitz' ligament, a multilobular, 40 mm large polyp was seen, which was subsequently surgically resected (Figure ). There were no other small bowel polyps; the suspected smaller polyp seen on the small bowel series was therefore most likely an artefact.\nPathologic examination of this polyp demonstrated a hamartomatous polyp with arborization of smooth muscle compatible with a PJP (Figure ). No signs of dysplasia were seen and the surrounding tissue had a normal histological appearance. Immunohistochemistry was negative for p53, focally positive for cyclin D1 and the basal parts of the cryps were positive for Ki67/MIB1.\nThe postoperative course has been unremarkable and no further gastrointestinal bleeding has occurred. Total colonoscopy did not show any additional polyps. A repeated, extensive family history, performed by a clinical genetics consultant, did not reveal clues (including pigmentation, nasal or gastrointestinal polyps or typical secondary tumors) to the occurrence of PJS in family members.
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 )