Peutz-Jegher's syndrome presenting as jejunoileal intussusception in an adult male: a case report

Abstract

IntroductionPeutz-Jegher’s syndrome is a rare autosomal dominant disorder that typically manifests itself as recurrent colicky abdominal pain and blood loss in stools. In adults, it is only rarely accompanied by frank intussusception and intestinal obstruction. We encountered an adult Asian Indian male who presented with an intestinal obstruction due to jejunoileal intussusception. It was caused by a 3.5 cm large hamartomatous polyp of Peutz-Jegher’s syndrome. We feel reporting the unusual presentation of this rare condition may be a noteworthy contribution to the scarce literature on Peutz-Jegher’s syndrome from India. The case report may be of educational importance to the clinicians and students because it is unusual to see this case in typical clinical practice.Case presentationA 38-year-old Asian Indian male presented to us in the surgical emergency room with colicky abdominal pain, reporting vomiting and blood in stools over the previous two days. Clinical examination suggested intestinal obstruction. Ultrasonography of the abdomen showed signs of intussusceptions, which were then confirmed by an emergency exploratory laparotomy. We resected the intussuscepted small bowel segment and performed a jejuno-ileal anastomosis. A histopathology examination of the resected specimen revealed multiple hamartomatous polyps suggestive of Peutz-Jegher’s syndrome. In this case report, we present the pathology findings, their clinical correlation and a detailed discussion of Peutz-Jegher’s syndrome and adult intussusception. We also discuss its other rare presentations reported in literature.ConclusionHamartomatous polyps of Peutz-Jegher’s syndrome can sometimes grow to a large size and form the lead point of an intussusception.

Massive intussusception caused by a solitary Peutz–Jeghers type hamartomatous polyp

“…The incidence has been estimated to be 1 in 150.000 births. 3 The cause has been proven to be a germline mutation on the serine/threonine kinase 11 (STK11/LKB1) tumour suppressor gene on chromosome 19p13.3 in most cases (70-80%). The World Health Organization has laid down the following diagnostic criteria for Peutz-Jeghers syndrome: > three or more histologically confirmed Peutz-Jeghers polyps > any number of Peutz-Jeghers polyps with family history of Peutz-Jeghers syndrome > characteristic mucocutaneous pigmentation with a family history of Peutz-Jeghers syndrome > any number of Peutz-Jeghers polyps and characteristic mucocutaneous pigmentation.…”

Peutz-Jeghers syndrome: A circumventable emergency

“…The more common types of intussusception are jejunojejunal, jejunoileal, ileoileal, ileocecal and rarely duodenojejunal-jejunal type. [ 7 8 9 ] The patient generally presents to the emergency with features of acute abdomen, i.e., pain, constipation/obstipation, nausea, vomiting, abdominal distention, tachycardia, tachypnea, and hypotension. After the initial resuscitation, emergency X-ray abdomen and if possible, computed tomography (CT) abdomen is advisable.…”

Peutz-Jeghers syndrome: a case report and literature review

“…Although most of the polyps reside in the jejunum, it may also occur in ileum,stomach, duodenum and/ or colon. Those polyps are present from childhood and may sometimes lead to intussusception or gastrointestinal bleeding [6][7][8] . Carcinoma of GIT, pancreas, breast, ovary testicles and endometrium appear to be an infrequent complications of Peutz-Jeghers syndrome.…”