The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

Abstract

Introduction

Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps along with skin and mucosal macular melanin lesions. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.

Case Presentation

In the present study, it is presented the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception.

A 24-year-old woman was referred to the surgical department with symptoms suggestive to an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy was performed, revealing bowel obstruction caused by an intussusception with a large polyp. The patient suffered other five surgical interventions regarding obstruction phenomena, appendicectomy and extrauterine pregnancy.

Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests as to diagnose early and avoid complications.

Conclusion

Peutz Jeghers Syndrome is difficult to treat due to the nonspecific symptomatology and late diagnosis consequently. Life-threatening complications such as intusussception and various types of cancer are unanticipated. It is vital to diagnose complications and perform routine screening which will make it possible to prolong survival of many patients.