Cerebral Lipids in a Case of Systemic Gm2‐gangliosidosis of a Late Infantile Type1

Abstract —Quantitative analyses performed on the lipids of cerebral grey matter from brains of a normal child and a child with Tay‐Sachs (T‐S) disease were compared with such analyses on the brain of a 6‐year‐old, non‐Jewish male with systemic GM2‐gangliosidosis of a late infantile type (GM2‐LI). Analysis of gangliosides showed a 3·5‐fold increase of total gangliosides in the GM2‐LI brain and a six‐fold increase in the T‐S brain, compared to normal brain. Both pathological brains had similar distribution patterns for gangliosides, with the GM2‐ganglioside component constituting more than 80 per cent of the total. Lipid components in the T‐S brain were below normal values except for lecithin and cholesterol, while in the GM2‐LI brain there were increases in sulphatides, cerebrosides, sphingomyelin and cholesterol. Approximately twice as much ceramide trihexoside was present in the T‐S brain as in the GM2‐LI brain, and none could be detected in the normal brain. The clinical, pathological and biochemical data support the conclusion that this case represents a new variant of systemic late‐infantile gangliosidosis in which there is an accumulation of the GM2‐ganglioside like that in Tay‐Sachs disease.