Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease

Morton F. Goldberg, Edward Cotlier, Larry G. Fichenscher, Kenneth Kenyon, Rafael Enat, Stephen A. Borowsky

Research output: Contribution to journalArticle

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 presence of dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, -galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by the absence of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.

Original languageEnglish (US)
Pages (from-to)387-398
Number of pages12
JournalArchives of internal medicine
Volume128
Issue number3
DOIs
StatePublished - Sep 1971

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ASJC Scopus subject areas

  • Internal Medicine

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