AN AUTOPSY CASE OF FETAL GAUCHER-DISEASE

Background: A case of fetal form of Gaucher disease in a Japanese fetu s is presented. Results: A macerated baby showing hydrops fetalis was dissected at 29 weeks of gestation. The fetus was heavier in the body, Liver and spleen than a normal fetus at the same gestation period. It also suffered from pericardial effusion and ascites. The diagnosis of Gaucher disease was made by histological and biochemical findings. In microscopical examinations 'Gaucher cells', which were periodic acid- Shiff (PAS)-positive, alcian blue-positive and CD68-positive, existed in the lungs, liver, spleen, thymus, adrenal glands, bone marrow and b rain. In thin layer chromatography, a large quantity of glucocerebrosi de was seen to have accumulated in the patient's organs.