Peutz-Jeghers syndrome associated with eventration of left hemidiaphragm in a child: A case report

Jiledar Rawat

doi:10.46831/jpas.v1i1.22

Abstract

Background: Peutz–Jeghers syndrome (PJS) is a rare genetic disorder. PJS with ileo-ileal intussusception and left-sided eventration of the diaphragm is an extremely rare presentation and not been reported so far. Case Presentation: An 8-year-old child of PJS presented with acute intestinal obstruction. Examination and investigations of the child revealed intussusception with left side elevated hemidiaphragm. Surgical correction of both conditions was done. Conclusion: PJS with intestinal obstruction due to intussusception needs surgical correction. Sometimes these cases may present with other associated surgical conditions that too need simultaneous surgical correction.

Highlights

Peutz-Jeghers syndrome (PJS) an autosomal dominant hereditary genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.[1]
We are presenting a case of PJP with intestinal obstruction due to intussusception and left side eventration of the diaphragm
PJS is an autosomal dominant disease characterized by hamartomatous polyposis throughout the gastrointestinal tract, as well as mucocutaneous pigmentations, mostly on the lips, oral, and gingival mucosae.[1]

Summary

Introduction

Peutz-Jeghers syndrome (PJS) an autosomal dominant hereditary genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.[1]. Peutz-Jeghers syndrome (PJS) an autosomal dominant hereditary genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.[1] It has an incidence of approximately 1 in 25,000 to 300,000 births.[1] It may develop various complications such as gastrointestinal bleeding, intussusception, and malignant transformation.[2] Occasionally other surgical maladies can coexist. We are presenting a case of PJP with intestinal obstruction due to intussusception and left side eventration of the diaphragm.

Results

Conclusion