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