Peutz-Jeghers Syndrome, A Rare Polyposis Syndrome: A Case Report

Abstract

Peutz-Jeghers Syndrome (PJS) is an uncommon familial disorder that leads to the development of gastrointestinal and extragastrointestinal hamartomatous polyps, mucocutaneous pigmentation with an increased risk of malignancy. This polyposis syndrome is associated with variable clinical course with significant mortality & morbidity and is known to cause complications like intussusception, obstruction, anemia, and bleeding. Here, we report a case of a 21 years old young female suffering from PJS to increase awareness amongst clinicians regarding this rare syndrome. She presented to us with complaints of pain in the epigastrium and left hypochondrium, constipation and malena. She had hyperpigmented mucocutaneous macules of brownish-black colour on the buccal mucosa and lips and also had numerous sessile-pedunculated polyps in stomach, duodenum, jejunum and colon. She was decided to undergo double-balloon enteroscopy and polypectomy (more than 35 polyps were removed). After an interval of 4 weeks, colonoscopic polypectomy was also done. There was a history of jejuno-jejunal intussusception for which resection and anastomosis of proximal jejunal was done in past. Hence, it is advisable for young cases having a presentation of intestinal obstruction, intussusception or malena, in presence of mucosal pigmentation and other pathognomonic signs of PJS, to screen for PJS. In case of PJS, a surgical emergency like intussusception may be present which if missed may turn into bowel ischemia which may have a grave sequel. In PJS, early intervention (polypectomy) preferably by double-balloon enteroscopy method is important to prevent morbidity and mortality caused by PJS. Follow-up of gastrointestinal polyps and regular lifelong screening for malignancy is recommended in PJS.