Peutz-Jeghers Syndrome Causing Intussusception and Malignancy at an Early Age
Journal: International Journal of Pharmaceutical Sciences and Medicine (IJPSM) (Vol.2, No. 10)Publication Date: 2017-10-28
Authors : Vijay Dhakre Preet Shah;
Page : 1-7
Keywords : Peutz-Jeghers Syndrome; intussusception; bowel obstruction; bowel cancer;
Abstract
PJS is a rare inherited condition, inherited as an autosomal dominant disorder, due to defect in the serine threonine kinase STK11 gene or LKB1 gene mapped on chromosome 19p13.3. These genes are known for tumor suppression.[1] The defect in these genes can explain the formation of hamartomatous polyps and predisposition to malignancy.[2] Genetic tests are used but a negative genetic test does not rule out PJS. A 22 year old gentleman presented with an acute abdomen, and was incidentally found to be having mucocutaneous pigmentation on examination. During the exploratory laparotomy, he was found to be having a jejuno-jejunal intussusception along with multiple polyps, the histopathological examination revealed adenocarcinoma.
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Last modified: 2017-10-28 13:55:19