[Case report of Gaucher's disease]

The case of a 42 years old man suffering from Gaucher's disease is reported. The primary diagnosis was liver cirrhosis based on echographic and scintigraphic examinations. The following signs were found: thrombocytopenia, slight hemolysis, shortened life of the erythrocytes with considerable sequestration in the spleen, abnormal flocculation tests, increased acid phosphatase. The X-ray examination revealed irregularly oval light spots with different size and form and well cut outlines in the skull and a zone of bone resorption in the right shoulder joint. The liver needle biopsy showed parenchymal infiltration with Gaucher's cells. The above mentioned deviations and the family heredity of the patients suggested the diagnosis of an adult form of Gaucher's disease. The fibroplastic changes in the liver including formation of septa led to the suggestion of a link between Gaucher's disease and liver cirrhosis.