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

A case of late diagnosis of Gaucher disease with lung involvement (case study) 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png ARS Medica Tomitana de Gruyter

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

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Publisher
de Gruyter
Copyright
Copyright © 2015 by the
ISSN
1841-4036
eISSN
1841-4036
DOI
10.1515/arsm-2015-0022
Publisher site
See Article on Publisher Site

Abstract

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

Journal

ARS Medica Tomitanade Gruyter

Published: May 1, 2015

References