DISSEMINATED LIPOGRANULOMATOSIS (FARBERS DISEASE) WITH HYDROPS-FETALIS

We report on a female preterm infant of 29 weeks' gestation with sever e hydrops fetalis who died 3 days post natum as a result of dis semina ted intravascular coagulation. Autopsy findings included anasarca, bil ateral pleural effusions, ascites and hepatosplenomegaly as well as mu ltiple, up to pinhead sized, white granulomas on the surface of liver, spleen and lungs. Microscopy revealed storage macrophages of the reti culoendothelial system, especially in liver, spleen and bone marrow, t he lymphatic organs, the salivary glands, the thyroid gland and the su prarenal medulla. Cerebrum, heart, kidneys, intestines and placenta we re not afflicted. Atrophy of the lymphatic compartments in the spleen, lymph nodes and thymus, as well as disorder of the liver texture, are presumably a secondary result. The diagnosis of Farber's disease was established biochemically by the demonstration of ceramide depositions in the spleen, and in fibroblast cultures in situ by the accumulation of ceramide released from loaded radioactive glucosylceramide. Ultras tructurally, corresponding storage lysosomes were found in macrophages . To our knowledge this is the first account of Farber's disease in a preterm infant with hydrops fetalis.