Recently, an inborn error of glycosphingolipid metabolism was described in which activities of beta-N-acetylhexosaminidase A and B were totally deficient. This resulted in the accumulation of two neutral glycosphingolipids, globoside and asialo GM2 ganglioside in the brain. The systemic storage of a particular type of glycosphingolipid results in specific anatomic and pathophysiologic manifestations. Our patient had cardiovascular symptoms prior to the development of signs of central nervous system degeneration. Multiple lamellar cytoplasmic inclusion bodies were visualized under electron microscopy in every tissue examined. The diagnosis was confirmed by extensive biochemical analysis of tissue glycosphingolipids. Biochemical diagnosis during life can be accomplished by the demonstration of elevated levels of globoside* * The use of the term globoside indicates the presence of galactosamine (GalNAc), galactose (Gal), glucose (Glc), sphingosine base and fatty acid in molar ratio of 1:2:1:1:1, and assignment of the galNAc to the terminal position, but does not indicate the stereochemistry and linkages of the respective sugar moieties. in plasma and urinary sediment as well as deficient activities of hexosaminidase A and B.