Peutz Jeghers syndrome with multiple intussusceptions

Abstract

Peutz Jegher’s syndrome is a rare autosomal dominant disorder characterized by the development of hamartomatous polyps and mucocutaneous melanin pigmentation. This case report shows the case of an adult Indian female with intestinal obstruction due to multiple intussusceptions that were caused by hamartomatous polyp of Peutz Jegher’s syndrome. A 32-year-old female presented to the surgical emergency with complaints of colicky abdominal pain, vomiting and melena and with a positive family history for Peutz Jegher’s syndrome. On abdominal examination, a mass was palpable in her right lumbar area and per rectal examination showed ballooning and blood staining. She was provisionally diagnosed with Peutz Jegher’s syndrome with intussusception and her ultrasound imaging of the abdomen also showed the features suggestive of intussusception. She underwent an emergency laparotomy with resection and anastomosis of the involved segment of the jejunum and limited right hemicolectomy. Intraoperative findings showed multiple intussusceptions in her both large and small bowels along with multiple polyps which was seen to be hamartomatous polyps in the histopathological studies. The postoperative period was uneventful and during the review she was healthy. Intussusception is the major complication of Peutz Jegher’s syndrome and it can be prevented with regular surveillance in known cases. Intussusception should be kept in mind as the first differential diagnosis when these patients present with acute abdomen. The investigation of choice that’s preferred is a cross sectional imaging of the gastrointestinal tract to confirm with the diagnosis. Periodic surveillance is essential in those patients with known history or those with the mutation of STK11 (LKB1) gene.