Two siblings suffering since birth from convulsions, hypotonia, and mental retardation are presented. In the older sibling (eight and one-half years of age) frontal lobe biopsy revealed abnormal cytosomes with lamellar profiles in astrocytes, macrophages, and to a lesser degree in neurons. Similar
The disorders presented consist of those clinical entities in which a reasonably well defined lipid storage material accumulated within nervous tissue. Many other progressive, degenerative disorders are suspected of being storage disorders, but their chemical pathology remains unclear. Collectively