Mucolipidosis I.
A case of mucolipidosis I had clinical and histopathologic features that were a combination of changes found in both mucopolysaccharidoses and sphingolipidoses. Corneal clouding, spokelike cataracts, tortuous conjunctival and retinal vessels, and strabismus were clinical findings. Histopathologically, there were inclusion vacuoles similar to those seen in mucopolysaccharidoses; lamellar bodies typical of sphingolipidoses were rare. These vacuoles were seen in conjunctival and corneal epithelium and fibrocytes, conjunctival and retinal vessel endothelium, and all retinal cell layers.
D003228:Conjunctiva / Q000473:pathology; D003315:Cornea / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D009081:Mucolipidoses / Q000201:enzymology / Q000473:pathology*