The syndrome of the sea-blue histiocyte

ABSTRACT

Nine patients had a syndrome characterized by the presence of a sea-blue histiocyte and splenomegaly. Lipid analysis of liver from the most recent patient revealed accumulations of specific glycosphingolipids and phospholipids. Urinary mucopolysaccharide excretion was increased, and there was a suggestion of mucopolysaccharide storage in the hepatic parenchymal cells. Clinically, patients with the disease may have a relatively benign course, with mild purpura secondary to thrombocytopenia, or may have progressive hepatic cirrhosis, hepatic failure and death. The name "syndrome of the sea-blue histiocyte," the striking morphologic feature of the disease, is suggested for these cases (AU)