LAUSR

A 25-year old male was brought to the emergency room with colicky abdominal pain, abdominal distension, vomiting and blood in stools since 3 days. There were also multiple hyper pigmented patches seen on the palms, soles and lower lips and buccal mucosa of the patient (Fig. 1). On examination, bowel sounds were increased with signs of acute intestinal obstruction and rectal examination revealed ballooning and black stools with mucus. Ultrasonography showed intussusception in left lumber region with features of acute intestinal obstruction. Patient was taken for emergency laparatomy. On exploration, there were multiple intussuscepted segments present as jejuno-jejunal, ileoileal and in sigmoid colon (colo-colic) with serosal surface showed some visible nodule as a lead point for new forming intussusceptions in the ileum (Fig. 2). Resection of jejuno-jejunal, ileo-ileal and colo-colic intussuscepted segment with jejunojejunal, ileo-ileal and colo-coloic anastomosis was performed. Resected specimen shows multiple polyps and hemorrhagic content in intestinal lumen. Histopathological examination showed features of multiple hamartomatous polyps in the resected segments with arborising network of blood vessels within polyps, suggestive of Peutz–Jeghers syndrome (PJS) (Fig. 3). Post-operative period was uneventful and patient was followed up for 3 months, 6 months and 1 year. PJS is a rare autosomal dominant inherited disorder due to genetic mutation of STK 11 gene at 19p13.3 band locus characterized by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions first reported by Peutz in 1921 in one Dutch family. The characteristic finding of PJS is the mucocutaneous pigmentation caused by melanin aggregation and found in 93% of PJS patients, but not in all. These lesions are commonly seen on lips, perioral region, conjunctiva, nostrils and buccal mucosa; and sparsely on the fingers, soles of the feet, palms, anal area and intestinal mucosa. The predominant clinical features of PJS are the result of gastrointestinal polyposis.