An Unusual Presentation of Peutz-Jeghers Syndrome: Recurrent Intussusception in a 13-Year-Old Female: A Case Report

Peutz Jeghers syndrome an autosomal dominant condition due to mutation in \nchromosome 19p13.3 can present with intestinal hamartomatous polyps. \nTypically, they present with hyperpigmented macules in the mucosa. We present \na case of a 13-year-old girl who presented in emergency department with \nrecurrent right sided abdominal pain and tenderness, vomiting, and a palpable \nmass. Patient has a significant positive family history of hyperpigmented macules. \nPatient was evaluated with contrast enhanced CT scan and was found to have \nileo-ileal intussusception and a gastric fundic polyp. Patient underwent emergency \nlaparotomy and was found to have Jejunojejunal intussusception with polyp at \nlead point. \nA 13-year-old girl presented in emergency department with complaints of \nabdominal pain, nausea & vomiting and constipation of one day duration. The \npatient was having recurrent episodes of abdominal pain over the past 2 month \nwhich previously got relieved after vomiting. There was also history of two \nepisodes of blood in stools over the past 2 months. There was no history of loss \nof weight or appetite and no alteration in bowel habits. \nOn general examination there were multiple well demarcated hyper \npigmented macules on the lips tongue and face. Her father and sister also had \nsimilar lesions on the face and lips. Rest of the skin, hair nails trunk extremities \ngums & palate was normal. \nOn examination abdomen was distended with diffuse tenderness but no \nrebound tenderness. There was a well-defined tender mass in right iliac and \nlumbar region.