Sea-blue histiocyte syndrome. A secondary degenerative process of macrophages?

A case of sea-blue histiocyte syndrome occurred in a 5-year-old boy. Associated laboratory findings include increased levels of hepatic phospholipids and glycosphingolipids, increased serum alkaline phosphatase level, and increased 24-hour urine mucopolysaccharide value. Bone marrow and liver biopsies and excision of chronically enlarged tonsillar tissue were performed. Macrophages that stained sea-blue with Wright-Giemsa stain were found in all tissues. Electron microscopic studies showed degenerating histiocytes packed with abundant loosely arranged myelin figures, some containing fingerprint-like cores formed by concentrically arranged lamellae with a periodicity of 45 A. These ultrastructural findings are compared with those obtained in other reported cases of the sea-blue histiocyte syndrome, as well as with those found in other clinical conditions in which degenerative macrophages are present. We conclude that the sea-blue histiocyte syndrome is a clinical entity that is associated with a variety of disease states; this entity is characterized by the presence of degenerating macrophages in various organs.