Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder.
The inherited abnormality of the Marinesco-Sjögren syndrome is not known. We studied four patients from two different families and ethnic groups. Electron microscopic studies revealed numerous, abnormally enlarged lysosomes that contained whorled lamellar or amorphous inclusion bodies. Enzyme studies excluded previously described lysosomal storage disorders.
D002386:Cataract / Q000151:congenital* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D002524:Cerebellar Ataxia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D013577:Syndrome