Bernshteyn Michelle, Bhutta Abdul Q, Bordas Jozsef, Mehta Rohin, Arif Muhammad Osman
Internal Medicine, Upstate University Hospital, Syracuse, USA.
Gastroenterology, Upstate University Hospital, Syracuse, USA.
Cureus. 2022 Mar 22;14(3):e23389. doi: 10.7759/cureus.23389. eCollection 2022 Mar.
There is a wide differential diagnosis within polyposis syndromes. Our case represents an interesting and diagnostically challenging diagnosis involving a 41-year-old male who presented with an incidental gastric mass on imaging and a colonic mass seen on colonoscopy. Following multiple endoscopic evaluations, histological analysis, and genetic testing, the patient was ultimately diagnosed with juvenile polyposis syndrome (JPS)/hereditary hemorrhagic telangiectasia (HHT) despite the initial suspicion for Ménétrier's disease. His disease course was complicated by an acute upper extremity thrombus and diagnosis of colorectal carcinoma. This case highlights the importance of a thorough evaluation when polyposis syndromes are suspected. Prompt and accurate diagnosis can aid in the treatment, surveillance, and prevention of colorectal carcinoma.
息肉病综合征的鉴别诊断范围很广。我们的病例代表了一个有趣且在诊断上具有挑战性的诊断,涉及一名41岁男性,他在影像学检查中偶然发现胃部肿块,结肠镜检查时发现结肠肿块。经过多次内镜评估、组织学分析和基因检测,尽管最初怀疑是梅内特里尔病,但该患者最终被诊断为幼年性息肉病综合征(JPS)/遗传性出血性毛细血管扩张症(HHT)。他的病程因急性上肢血栓和结直肠癌的诊断而变得复杂。该病例强调了在怀疑息肉病综合征时进行全面评估的重要性。及时准确的诊断有助于结直肠癌的治疗、监测和预防。