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

Autor: Laura Mazilu, Doina Tofolean, Irinel-Raluca Parepa, Tatiana Adam
Rok vydání: 2015
Předmět:
Zdroj: ARS Medica Tomitana, Vol 21, Iss 2, Pp 63-66 (2015)
ISSN: 1841-4036
DOI: 10.1515/arsm-2015-0022
Popis: 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
Databáze: OpenAIRE