A Kumar, P Shetty, B Anand Rao, Ramachandra
intestinal obstruction, intussusception, peutz-jeghers syndrome, small bowel obstruction
A Kumar, P Shetty, B Anand Rao, Ramachandra. Peutz-Jeghers syndrome presenting with small bowel obstruction as an emergency. The Internet Journal of Surgery. 2007 Volume 16 Number 2.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disorder. Giardello et al. proposed diagnostic criteria for PJS: The definition requires histopathological confirmation of hamartomatous gastrointestinal polyps and two of the following features: small bowel polyposis, positive family history and pigmented skin or mucosal brown macules.3 It is now acknowledged that patients with PJS are at higher risk of developing intestinal obstruction due to large polyps. Here we present a case of intestinal intussusception leading to obstruction in a patient with Peutz-Jeghers syndrome.
Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary disorder. It named after Dr. Johannes Peutz and Dr. Harold Jeghers who described a relation between mucocutaneous pigmentation and intestinal polyposis.1,2 The diagnostic criteria are histological confirmation of hamartomatous gastrointestinal polyps along with two of three of the below conditions: small bowel polyps, a family history of PJS and pigmented macules on the buccal mucosa, lips or digits3. It is now acknowledged that patients with PJS are at higher risk of developing intestinal obstruction due to large polyps. Here we present a case of intestinal intussusception leading to obstruction in a patient with Peutz-Jeghers syndrome.
A 21-year-old female was referred to the department of surgery as an emergency with the complaints of abdominal pain and bilious vomiting for the past 14 days. On general examination, mucocutaneous melanotic macules were noted. On abdominal examination, there was a palpable mass, firm in consistency and tender, in the left hypochondrium. Rigidity was also noted. With these complaints the patient underwent emergency exploratory laparotomy without any radiological investigations being done. On table, intussusception of the bowel was seen. A firm mass was palpable in the lumen of the bowel. A segmental resection was done as the mass was completely obstructing the lumen and a polypoidal mass was found. It was sent for histopathological examination. A diagnosis of Peutz-Jeghers syndrome was made clinically. Histopathological examination showed the hamatomatous nature of the polyps, strengthening our diagnosis. A history of similar mucocutaneous melanotic patches is noted in the family.
Peutz-Jeghers syndrome is an autosomal dominant hereditary disorder characterized by intestinal hamartomatous polyps and mucocutaneous melanocytic macules with a reported incidence of one in 83004 to one in 120 0005. Giardello et al. proposed diagnostic criteria for PJS3: The definition requires histopathological confirmation of hamartomatous gastrointestinal polyps and two of the following features: small bowel polyposis, positive family history and pigmented skin or mucosal brown macules.3,6 Though mainly hamartomatous, few polyps may have adenomatous components. Histologic examination of a polyp reveals a muscular core that extends in an arborial fashion into the superficial epithelial layer. Pigmented lesions are found in over 90 per cent of patients7, affecting the buccal mucosa, lips and digits, rectum, feet, vulva and conjunctiva. The causative locus for PJS is on chromosome 19p13.39. The gene is identified as
Our patient, as she had already presented with intestinal obstruction and abdominal signs of peritonitis, underwent emergency laparotomy without any radiological investigation being undertaken. Intra-operatively, a huge polyp was identified as the culprit for intussusception leading to obstruction. This polyp was then removed by segmental resection of the bowel after reducing the intussusception. Post-operatively, the patient recovered well and she is on regular follow-up by GI endoscopy.
Dr. Prashanth Shetty, M.B., B.S, M.S, Assistant Professor, Department of Surgery, Kasturba Medical College and Hospital, Manipal University, Manipal – 576104 Udupi District, Karnataka, India. Phone no.: +91 820 29 222 13 E-mail: firstname.lastname@example.org