The syndrome of the sea-blue histiocyte

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)

Acid mucopolysaccharide excretion in a family of patients with gargoylism

Gargoylism is a hereditary disorder of acid mucopolysaccharide metabolism and is associated with elevated urinary levels of total AMPS. This was confirmed in 9 of 40 members of a family, spread over three generations, in which there were three members with gargoylism. In other family with two children affected, the mother and 3 siblings were found to have elevated excretion of AMPS. Elevation in th excretion of AMPS in the direct ascendants and family of patients with gargoylism justified their qualification as heterozygous carriers of the gargoylism disease trait (AU)