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.
A 22-year-old male patient was referred to us for evaluation of multiple pigmented lesions over his mouth, present since childhood. Since the age of 9 year, there was a history of occasional hematochezia. However, there was no history of melena. The parents had taken him to a local physician, and the condition was managed with antihelminthic drugs, but the problem used to recur. There was no history of weight loss or any other systemic complaints. Five days back, he had presented to the general emergency with complaints of nonpassage of stool and flatus, pain, and distension of abdomen and vomiting. He had tachycardia, tachypnea, dehydration, hypotension, and distended rigid abdomen. Per rectal examination revealed empty rectum with blood mixed mucus. Straight X-ray abdomen showed dilated bowel loops, multiple air-fluid levels, and the absence of gas in colon and rectum []. Diagnosis of small bowel obstruction was made, and the patient was resuscitated. Hematological profiles and serum electrolytes were within the normal limits. Exploratory laparotomy was done. On exploration, ileocecal intussusception was found with a short segment of gangrenous ileum which was managed with limited ileocecal resection []. Numerous polyps were found along the whole length of the small and large gut. Proximal ileostomy with distal mucous fistula was made. A polyp was found to be the apex of the intussusception, which was histologically found to be a hamartomatous polyp [].\nDuring follow-up, upper gastrointestinal endoscopy and colonoscopy were done which revealed the presence of polyps from the gastric fundus to the rectum. Biopsy from those polyps confirmed a hamartomatous pathology []. Besides, detailed cutaneous examination revealed melanotic mucocutaneous macules in the lips and buccal mucosa [Figures and ]. As per the patient, one of his two younger brothers had similar lesions over the lips, but he was not available for examination. There was no history of hematochezia, melena, or weight loss among the siblings or any other family member.\nAfter 5 months of the first surgery, the patient was reoperated for taking down of ileostoma. During operation, colocolic intussusception was found in the transverse colon with a large mass palpable inside. This colocolic intussusception was resected with ileotransverse anastomosis. Postoperative period was uneventful, and the patient was discharged after 6 days. Histopathology of the mass showed expansion of the marginal zone of the lymphoid tissue along with sheets of heterogeneous population of small lymphocytes, suggestive of MALToma []. Immunohistochemistry showed CD20 positivity. Both proximal and distal margins were negative for malignant cells.\nAfter 1-year follow-up, the patient was asymptomatic. Colonoscopy revealed few pedunculated polyps in the rectum and sigmoid colon, but the surface was smooth. Yearly colonoscopy follow-up was planned to detect early malignant changes.