Abstract
A 2-month-old female with Wolman's disease is presented as the first case of this illness in Japan. Two siblings of the patient had succumbed probably to the same disease. Histochemical examination revealed that numerous foamy cells containing cholesterol and neutral fat appeared in the reticuloendothelial system. Electron-microscopic observation revealed large droplets of fat in the cytoplasm of the foamy cells. Lipid analysis of the liver and spleen showed an abnormal accumulation of cholesterol (mainly esterified form) and triglycerides. On the determination of fatty acid moieties in cholesterol ester and triglycerides obtain-ed from the spleen linoleic acid could not be found. Infra-red spectrum of the cholesterol ester obtained from the spleen of our patient showed a close similarity to that of authentic cholesterol palmitate.
