Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency

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 the<i>presence</i>of 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 the<i>absence</i>of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.