共济失调毛细血管扩张症综合征患者因腺癌导致胃出口梗阻：一例病例报告及文献复习
Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.
作者信息
Otabor Iyore A, Abdessalam Shahab F, Erdman Steven H, Hammond Sue, Besner Gail E
机构信息
Department of Pediatric Surgery, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH 43205, USA.
出版信息
World J Surg Oncol. 2009 Mar 12;7:29. doi: 10.1186/1477-7819-7-29.
BACKGROUND
Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.
CASE PRESENTATION
We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction.
CONCLUSION
A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.
背景
共济失调毛细血管扩张症综合征的特征为进行性小脑功能障碍、结膜和皮肤毛细血管扩张、严重免疫缺陷、早衰以及易患癌症。共济失调毛细血管扩张症患者恶性肿瘤的临床和影像学评估通常不典型，导致诊断延迟。
病例报告
我们报告了一例20岁的共济失调毛细血管扩张症患者，患有胃腺癌，表现为完全性胃出口梗阻。
结论
对与共济失调毛细血管扩张症相关的腺癌进行文献检索发现了6例病例。所有患者均表现出提示溃疡病的非特异性胃肠道症状。虽然免疫球蛋白水平与胃腺癌的发生之间没有相关性，但慢性胃炎和肠化生的存在似乎会导致胃腺癌的发生。对于任何出现非特异性胃肠道症状的共济失调毛细血管扩张症患者，都应考虑腺癌，因为这可以导致早期诊断。
Zotero 插件