Valaei Morteza, Ganji Azita, Alizadeh Marieh
Department of Gastroenterology and Hepatology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Internal Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Gastroenterol Hepatol Bed Bench. 2024;17(2):206-211. doi: 10.22037/ghfbb.v17i2.2898.
Chronic granulomatous disease (CGD) is a rare disorder normally diagnosed in infancy.
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.
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.
慢性肉芽肿病(CGD)是一种罕见疾病,通常在婴儿期被诊断出来。
一名27岁男性因CGD的非特异性症状入院,首先接受了内镜检查和结肠镜检查,作为对临床表现的初步评估。首次入院18个月后,他因呕血被转诊至急诊科,处于危急状况,如严重贫血,血红蛋白(Hgb)=2.6mg/dl。由于这种特殊的临床表现,进行了紧急治疗,内镜检查显示十二指肠球部和空肠有溃疡及异常。其他影像学检查,如超声和腹部CT扫描,显示脾肿大。他接受了脾切除术,之后计划进行球囊经口内镜下肌切开术(TTS)扩张的内镜治疗,但该手术失败。因此,我们决定进行胃空肠吻合术,这缓解了临床症状。九个月后,他因胃出口梗阻(GOO)前来就诊,内镜评估显示十二指肠有巨大溃疡伴严重狭窄,空肠造口处有一个息肉。最终,根据临床表现和活检的病理证据,患者最终被诊断为CGD。
逐步排除不同的高度可疑疾病可能会得出明确的CGD诊断,对这些患者进行快速管理可能会增加生存机会。