Peutz Jeghers Syndrome Revealed by Intestinal Intussuception: A Case Report and A Review of the Literature
Author(s): Derqaoui Sabrine, Antonio Blata Vladimir, Jahid Ahmed, Echarrab El Mahjoub, Bernoussi Zakia, Znati Kaoutar
Introduction: Peutz-Jeghers syndrome (PJS) is a rare autosomal inherited polyposis syndrome, characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with mucocutaneous pigmentation. Polyps mainly occur in the small intestine. Patients with PJS have an increased risk of many cancers. Histologically, the presence of a smooth muscle arborization within the lamina propria is the hallmark of those polyps. Intussusceptions is a rare complications of gastrointestinal polyps. In the present study, we report the case of this rare entity with particular histological features in a young woman who developed a jejunal obstruction caused by an intussusception.
Case Presentation: A 32-year-old woman presented to the emergency department with jejunal obstruction caused by an intussusception. She had a pigmented macules around the mouth and on the tongue. An urgent exploratory laparotomy was performed, revealing a distended invaginated ischemic part of proximal jejunum.Careful exploration of the abdominal cavity and intestine revealed multiple polyps inside the small intestine. On gross, one pedunculated polyp was found. Histollogically, it had a central core of smooth muscle showing a tree like branching with a pseudo-invasion like pattern due to the extension of glands in the subserousa.
Conclusion: PJS is a rare syndrome, which often remains undiagnosed for many years. Early diagnosis, treatment, and regular follow-up are important for an excellent prognosis in individuals presenting with this rare syndrome.