A young female presented with features of Gastric Outlet Obstruction.

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Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and an increased risk of gastrointestinal cancer. Polyps are found throughout the gastrointestinaltract but commonly in the small bowel (60-90%), colon (50-64%), stomach (15-30%) and presents with gastrointestinal bleeding, anaemia, abdominal pain due to intussusceptions, and obstruction of small intestine or infarction. PJS as a cause of gastric outlet obstruction is rare.A young female of 13 years presented with recurrent attack of abdominal pain, vomiting with significant weight loss for last 4 years. Pain was severe, colicky, in epigastric, periumbilical region aggravated after taking food, relieved with vomiting (spontaneous and induced), vomitous contained 2-3 previous days undigested food. She lost 8 kg weight in last 1 year. She underwent appendicectomy 3 years back. There was no history of fever, jaundice, haematemesis, melaena, alteration of bowel habit. She was moderately anaemic, nonicteric, BMI 15 kg/m2with black pigmentation in lower lip, mucous membrane, at finger tips and sole of foot(figure:1) with an ill-defined lump in epigastric region. Other systemic examination revealed normal. Her haemoglobin was 9 gm/dl, ESR, CRP, LFT, creatinine, CXR were normal with hyponatremia (Na 125), hypokalemia (K 2.5). USG of abdomen suggested gastric mass. After one unit of blood transfusion and correction of electrolyte imbalance, UGI endoscopy revealed multiple gastric & duodenal polyps with largest one was situated at lower body along the lesser curvature with a long pedicle, body of the polyp was impacted into pylorus(figure2). Endoscopic polypectomy(figure2) was done for larger polyps of stomach & duodenum, relieved obstruction with significant symptomatic improvement. Histopathology revealed hamartomatous polyp. Later on colonoscopy also revealed multiple polyps of variable sizes followed by colonoscopic polypectomy, histologically hamartomatous polyps. Our final diagnosis was PJS with gastric outlet obstruction due to gastric polyp with polyposis coli

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