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Journal
2010 | 5 | 4 | 495-498
Article title

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

Content
Title variants
Languages of publication
EN
Abstracts
EN
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.
Publisher

Journal
Year
Volume
5
Issue
4
Pages
495-498
Physical description
Dates
published
1 - 8 - 2010
online
30 - 5 - 2010
Contributors
author
author
  • Departments of Pediatrics Ondokuz Mayis University, 55139, Samsun, Turkey
  • Departments of Radiology Ondokuz Mayis University, 55139, Samsun, Turkey
author
  • Departments of Radiology Ondokuz Mayis University, 55139, Samsun, Turkey
References
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  • [2] Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher’s disease. Report of three cases and review of the literature. Am J Med 1977;63:475 http://dx.doi.org/10.1016/0002-9343(77)90288-1[Crossref]
  • [3] Wolson AH. Pulmonary findings in Gaucher’s disease. AJR 1975;123:712
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  • [5] Yassa NA, Wilcox AG. High-Resolution CT pulmonary findigs in adults with Gaucher’s disease. Clin Imaging 1998;22:339–342 http://dx.doi.org/10.1016/S0899-7071(98)00028-X[Crossref]
  • [6] Smith RR, Hutchins GM, Sack GH, Ridolfi RL. Unusual cardiac and pulmonary involvement in Gaucher’s disease. Interstitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med 1978;65:352. http://dx.doi.org/10.1016/0002-9343(78)90832-X[Crossref]
  • [7] Harvey PKP, Jones MC, Anderson EG. Pericardial abnormalities in Gaucher’s disease. Brit Heart J 1969;31:603–606 http://dx.doi.org/10.1136/hrt.31.5.603[Crossref]
  • [8] Tamari I, Morto M, Neufeld HN. Unusual pericardial calcification in Gaucher’s disease. Arch Intern Med 1983;1453:2010–2011 http://dx.doi.org/10.1001/archinte.143.10.2010[Crossref]
  • [9] George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher’s disease homozygous for he D409H mutation. Clin Genet 2001;59:360–363 http://dx.doi.org/10.1034/j.1399-0004.2001.590511.x[Crossref]
  • [10] Casta A, Hayden K, Wolf WJ. Calcification of the ascending aorta and aortic and mitral valves in Gaucher’s disease. Am J Cardiol 1984;54:1390–1391 http://dx.doi.org/10.1016/S0002-9149(84)80115-0[Crossref]
  • [11] Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzales-Duarte R, Vilageliu L. Unusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet 1995; 32:740–742 http://dx.doi.org/10.1136/jmg.32.9.740[Crossref]
  • [12] Ben Harosh-Katz M, Patlas M, Hadas-Halpern I, Zimran A, Elstein D. Increased prevalence of cholelithiasis in Gaucher disease. Association with splenectomy but not with Gilbert Syndrome. J Clin Gastroenterol 2004;38:586–589 http://dx.doi.org/10.1097/00004836-200408000-00009[Crossref]
  • [13] Rosenbaum H, Sidransky E. Cholelithiasis in patients with Gaucher disease. Blood Cells Mol Dis 2002;28:21–27 http://dx.doi.org/10.1006/bcmd.2001.0480[Crossref]
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_s11536-009-0062-1
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