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

Abstract

Intussusception is a rare cause of intestinal obstruction in adults and represents a diagnostic challenge for the surgeon. In the majority of cases, presenting symptoms are not specific, making preoperative diagnosis difficult. Several medical conditions may cause intestinal intussusception. We present the case of a 16-year-old female patient with intussusception due to a hamartomatous Peutz-Jeghers type polyp. This is an extremely rare case in which the first manifestation of the intestinal polyp was jejunojejunal intussusception very close to the duodenojejunal junction, with a necrotic intussusceptum about 50 cm long. The patient was treated successfully with enterectomy and end-to-end anastomosis. Postoperative course was uneventful and the patient is currently under gastroenterological and genetic investigation to exclude the diagnosis of Peutz-Jeghers syndrome.

Peutz–Jeghers syndrome revealed by recurrent small bowel intussusceptions in children: A case report

“… 3 , 4 , 5 , 6 It is an extremely rare disease, with an incidence of 1 in 12–30,000 live births, 2 , 7 , 8 and whose pathogenesis has been related to a germline mutation on the serine/threonine kinase 11 (STK11/LKB1) tumor suppressor gene on chromosome 19p13.3. 9 …”

“…Microscopic aspect is characterized by a tree‐like branching of smooth muscle fibers, with a core of smooth muscle arising from the muscularis mucosa and extending into the polyp, covered by mucosal tissue with near‐normal appearance. 9 Mucocutaneous pigmentations appearing with PJ‐affected patients have also characterized aspect and location. They correspond to small, oval or circular and dark brown lentigines, 1 and their most common locations are lip and buccal mucosae.…”

Unusual case of small bowel intussusception in adult revealing a Peutz-Jeghers syndrome

“…In most cases (70–80%), a germline mutation in the serine/threonine kinase 11 (STK11/LKB1) tumor suppressor gene on chromosome 19p13.3 has been identified as the cause. 11 …”

“…The World Health Organization (WHO) has established the following criteria for diagnosing PJS 11 clinically: Three or more histologically confirmed Peutz–Jeghers polyps, Any number of Peutz–Jeghers polyps with a family history of PJS, Characteristic mucocutaneous pigmentation with a family history of PJS, Any number of Peutz–Jeghers polyps and characteristic mucocutaneous pigmentation. …”

Acute intestinal obstruction in Peutz Jeghers syndrome: a case report

“…3 The World Health Organization has laid the following criteria allowing clinical diagnosis of PJS: 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 PJS, any number of Peutz-Jeghers polyps and characteristic mucocutaneous pigmentation. 4 Patients with PJS often present with a history of intermittent abdominal pain due to small bowel intussusception caused by the polyps. The majority that have been reported in the literature are either ileal or jejunal.…”