Noorelahi Razan, Perez Geovany, Otero Hansel J
Department of Diagnostic Imaging and Radiology, Children's National Health System, The George Washington University School of Medicine & Health Services, 111 Michigan Ave. NW, Washington, DC, 20010, USA.
Pulmonary & Sleep Medicine Division, The George Washington University School of Medicine & Health Sciences, Washington, DC, USA.
Pediatr Radiol. 2018 Feb;48(2):279-282. doi: 10.1007/s00247-017-3961-3. Epub 2017 Sep 28.
Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described.
科帕综合征是一种新描述的常染色体显性自身炎症性疾病，表现为肺含铁血黄素沉着症和多关节关节炎。迄今为止，已报道了来自五个家庭的21例病例。我们展示了一名12岁男孩的胸部计算机断层扫描（CT）和颞下颌关节磁共振（MR）检查结果，该男孩表现为劳力性呼吸困难、疲劳和杵状指。其他检查结果包括肺部受累的限制性模式以及阳性炎症标志物和自身抗体。基因检测发现COPA基因的p.W240R变异，确诊为科帕综合征。胸部CT显示主要分布在下叶的非特异性间质性肺炎模式。还描述了颞下颌关节的MR检查以及三年后的随访CT检查结果。
