A Rare Case of PeutzJegher Syndrome Presenting with a Solitary Polyp in the Jejunum – A Case Report

Background: Intussusception is a common abdominal emergency requiring surgical intervention in newborns and infants. They commonly present in babies less than 2 years of age. A vast majority of intussusceptions are idiopathic. They rarely present in older age groups and in adults. Certain autosomal disorders may be linked to intussusceptions. Peutz Jegher Syndrome is a rare autosomal dominant disorder resulting due to mutation in the SPK 11 gene located in chromosome 19q13.3. The disease is characterized by multiple hamartomatous polyposis, jejuna intussusceptions and hyperpigmented melanotic spots in the mucocutaneous regions like mouth, etc. Case report: We present a case of 12 year old girl with chronic stomach pain and occasional vomiting. General examination showed presence of hyperpigmented spots in the soles, cheeks, lips and mouth. CECT abdomen showed presence of jejunal intussusception. The patient was taken up for laproscopy and laparotomy was performed after reducing the intussusceptions. A soliatary sessile polyp was removed and histopathological examination confirmed the presence of hamartomatous polyp. There is an increased susceptibility of cancers of gastrointestinal system and several other organs like breast, ovaries, etc. Conclusion: Further research in this area may be carried out to explore the risk factors and genetic mechanisms which may help in early detection and prevention of such rare syndromes