An unusual form of Gaucher’s disease: pulmonary and cardiovascular involvement and cholelitiasis

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• 作者：Meltem Ceyhan (1)
  Fatma Cakmak Celik (2)
  Muzaffer Elmali (1)
  Nevzat Gurmen (1)
  
• 关键词：Gaucher’s disease ; Cardiovascular calcification ; Pulmonary interstitial involvement
• 刊名：Central European Journal of Medicine
• 出版年：2010
• 出版时间：August 2010
• 年：2010
• 卷：5
• 期：4
• 页码：495-498
• 全文大小：1605KB
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• 作者单位：Meltem Ceyhan (1)
  Fatma Cakmak Celik (2)
  Muzaffer Elmali (1)
  Nevzat Gurmen (1)
  
  1. Departments of Radiology Ondokuz Mayis University, 55139, Samsun, Turkey
  2. Departments of Pediatrics Ondokuz Mayis University, 55139, Samsun, Turkey
  

文摘

Gaucher’s disease is an inherited storage disease caused by a deficiency of the enzyme glucocerebrosidase. Although the hepatic manifestations are seen frequently, pulmonary and cardiovascular involvements are known to be very rare in Gaucher’s disease. This report presents these rare findings made by conventional radiography, computerized tomography (CT), and High-resolution CT (HRCT) of a 16-year-old female patient with fatal Gaucher’s disease.