Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

Abstract

A new syndrome which combines clinical features of several storage diseases (mucopolysaccharidoses, sphingolipidoses, and mucolipidoses), but which is nonetheless unique, is characterized by autosomal recessive inheritance and thepresenceof dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, β-galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by theabsenceof clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.