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

Ceyhan M., Celik F. C., Elmalı M., Gurmen N.

CENTRAL EUROPEAN JOURNAL OF MEDICINE, cilt.5, sa.4, ss.495-498, 2010 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5 Sayı: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.2478/s11536-009-0062-1
  • Dergi Adı: CENTRAL EUROPEAN JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.495-498
  • Anahtar Kelimeler: Gaucher's disease, Cardiovascular calcification, Pulmonary interstitial involvement, D409H MUTATION, CT, CHOLELITHIASIS, CALCIFICATION, BONE
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.