Liver lipids in Letterer-Siwe disease

A case of Letterer-Siwe disease in a thirteen-month-old girl with markedly swollen gums, an enlarged liver, and seborrhoic skin eruptions is reported. She died from pyopneumothorax in spite of treatment with prednisolone and vinblastine. Analysis of hepatic lipids showed that there was remarkable increase in free fatty acid, which is not seen in normal human liver. Cholesterol ester was also accumulated in the liver tissue. However, the concentrations of phospholipids and glycerides were low and lysophospholipid was found. It is assumed that there was increased intracellular lipolysis in the proliferating reticuloendothelial cells.