Abstract
We present a case report of a patient with a proven diagnosis of Gaucher disease at the enzymatic and molecular genetic level. After the onset of the enzymatic replacement therapy the problems subsided rapidly, the organomegaly alleviated, the hematological parameters normalized, the activity of the biomarkers decreased and the weight and growth gaining improved.
After five years of successful treatment, an increase of biomarkers, progression of organomegaly, development of general lymphadenopathy, hearing loss and chronic respiratory insufficiency requiring oxygen therapy were observed. The patient ceases to thrive, and imaging methods confirm the development of ascites and massive pulmonary infiltration.
Despite high doses of enzyme replacement therapy, later in combination with substrate reduction therapy, cardiorespiratory failure gradually progresses with subsequent death in acute respiratory infection.