Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Pediatr Infect Dis J. 2012 May;31(5):529-31. doi: 10.1097/INF.0b013e3182481ed9.
We describe a patient who presented at 9 years of age with oral ulcers and cutaneous lesions, meeting diagnostic criteria for Behçet disease. At 11 years of age, she developed infectious complications and was proven to have chronic granulomatous disease, with characterization of the specific genetic mutation. We review available literature regarding overlap of these symptom complexes leading to delay in securing this important diagnosis. This is the second reported case of chronic granulomatous disease mimicking Behçet disease, and the first report to include identification of the specific genetic mutation of the nicotinamide adenine dinucleotide phosphate oxidase complex.
我们描述了一位患者，她在 9 岁时出现口腔溃疡和皮肤损伤，符合贝切特病的诊断标准。11 岁时，她出现感染并发症，并被证实患有慢性肉芽肿病，并确定了特定的基因突变。我们回顾了有关这些症状重叠导致延迟确诊这一重要诊断的可用文献。这是第二例模仿贝切特病的慢性肉芽肿病病例报告，也是首例报告包括烟酰胺腺嘌呤二核苷酸磷酸氧化酶复合物特定基因突变的病例。
