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A case of late diagnosis of Gaucher disease with lung involvement (case study) Cover

A case of late diagnosis of Gaucher disease with lung involvement (case study)

Open Access
|Jul 2015

Abstract

The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung fibrosis. A hematological disease was suspected and further investigations were done. The bone marrow aspirate raised the suspicion of Gaucher’s disease. The positive diagnosis was Gaucher’s disease with lung involvement (pulmonary fibrosis and pulmonary hypertension), and cardiac involvement (restrictive cardiomyopathy). Clinical evolution was unfavorable, and the patient died of cardiorespiratory failure.

In conclusion, the present case report illustrates a late diagnosis of Gaucher’s disease with lung and cardiac involvement resulting in death in a short period

DOI: https://doi.org/10.1515/arsm-2015-0022 | Journal eISSN: 1841-4036 | Journal ISSN: 1223-9666
Language: English
Page range: 63 - 66
Published on: Jul 29, 2015
Published by: Ovidius University of Constanta
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2015 Doina Tofolean, Tatiana Adam, Laura Mazilu, Irinel-Raluca Parepa, published by Ovidius University of Constanta
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.