RESUMO
Background: Chronic granulomatous disease (CGD) is a rare disorder normally diagnosed in infancy. Case presentation: A 27-year-old man admitted with non-specific symptoms of CGD first underwent endoscopy, and colonoscopy procedures as primary evaluation of clinical presentation. Eighteen months after the first admission, he was referred to the emergency department for hematemesis, and critical situations, such as a severe anemic with Hgb= 2.6 mg/dl. As a result of this specific clinical presentation, urgent emergency treatment was performed, and endoscopic examination revealed ulcers and abnormalities in the duodenal bulb and jejunum. Other imaging procedures, such as sonography, and abdominal CT scans, showed splenomegaly. He underwent splenectomy, and after that, endoscopic treatment with balloon TTS dilation was scheduled, but this procedure failed. So, we decided to do a gastro-jujenostomy that alleviated the clinical symptoms. After nine months, he was referred to GOO, and endoscopic evaluation showed giant ulceration with severe stricture in the duodenum, and a polyp in the jejunostomy. Finally, Based on clinical presentation and pathologic evidence of biopsies, the patient approached CGD as the final diagnosis. Conclusion: Step-by-step, rule out of different highly suspicious diseases may result in a definite CGD diagnosis, and rapid management of these patients may increase the chance of survival.