Imaging findings of Copa syndrome in a 12-year-old boy.
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 resonanc...
| Publicado en: | Pediatric Radiology Vol. 48; no. 2; pp. 279 - 283 |
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| Autores principales: | , , |
| Formato: | case study Journal Article |
| Publicado: |
Springer Nature
Feb2018
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=127735439&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 127735439 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 03010449 O03 jtl: Pediatric Radiology issn: 03010449 maglogo: N pubinfo: dt: Feb2018 vid: 48 iid: 2 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 127735439 127735439 143903594 NLM28956095 127735439 10.1007/s00247-017-3961-3 NLM28956095 127735439 ppf: 279 ppct: 4 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Imaging findings of Copa syndrome in a 12-year-old boy. aug: au: Noorelahi, Razan Perez, Geovany Otero, Hansel J. affil: Department of Diagnostic Imaging and Radiology, Children’s National Health System, The George Washington University School of Medicine & Health Services, 111 Michigan Ave. NW, 20010, Washington, DC, USA sug: subj: Immunologic Deficiency Syndromes Hemosiderosis Arthritis Lung Diseases Magnetic Resonance Imaging Tomography, X-Ray Computed Temporomandibular Joint Diseases Immunologic Deficiency Syndromes Drug Therapy Hemosiderosis Drug Therapy Male Child Mutation Contrast Media Respiratory Function Tests Temporomandibular Joint Diseases Drug Therapy Diagnosis, Differential Arthritis Drug Therapy Lung Diseases Drug Therapy Arthritis Impact Measurement Scales Child: 6-12 years Male ab: 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. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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