Peutz-Jeghers Syndrome presenting as Intussusception in a young female: A Case Report

  • Junaid Zia Hashmi Post Graduate Resident, Nishtar Hospital Multan
  • Muhammad Masood ur Rauf Khan Head of Department, Surgical Unit IV, Nishtar Hospital Multan
  • Waqas Arshad Consultant Surgeon, City Hospital Multan
  • Zeeshan Haider Pirzada Post Graduate Resident, Nishtar Hospital Multan
  • Arifa Zia Hashmi Demonstrator, Bakhtawar Amin Medical College and Hospital, Multan
Keywords: Intussusception, : Hamartomatous polyps, Melanosis

Abstract

Peutz-jeghers syndrome is rare condition with autosomal dominant inheritance. It is due to the mutation in a tumor suppressor gene SK 11 at chromosome no 9. It has a very characteristic presentation. Patient usually presents at a young age with intestinal obstruction due to polyps leading to intussusception. Also there is melanosis at perioral, digits and perineal regions. There is very strong association of cervical and breast carcinoma in females and testicular tumors in males. GIT, pancreatic and lung malignancies occur in both sexes. Regular follow up and screening are necessary for early detection of malignancies. We present a case of young girl who presented with intestinal obstruction along with other signs and symptoms of peutz-jeghers syndrome. Exploratory laparotomy revealed jejunoileal intussusception and hamartomatous polyps. Patient and other family members were advised screening studies of associated malignancies and regular follow up.

Author Biographies

Junaid Zia Hashmi, Post Graduate Resident, Nishtar Hospital Multan

Post graguate resident, Surgical unit IV, Nishtar Medical University and Hospital Multan

Muhammad Masood ur Rauf Khan, Head of Department, Surgical Unit IV, Nishtar Hospital Multan

Professor of Surgery, Head of Department, Surgical unit IV, Nishtar Medical University and Hospital Multan

Published
2019-09-29
Section
Case Reports