galactosialidosis (Goldberg syndrome)
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Pathology
- beta-galactosidase deficiency
- neuraminidase deficiency
- function & stability of beta-galactosidase & neuraminidase dependent on cathepsin-A (CTSA)
- vacuolation of Kupffer cells
Genetics
- autosomal recessive form associated with defects in CTSA
Clinical manifestations
- dwarfism
- gargoyle facies
- mental retardation
- seizures
- corneal clouding
- macular cherry red spot,
- dysostosis multiplex
- hearing loss
Laboratory
- peripheral blood smear (vacuolated blood cells)
- mucopolysaccharides in urine (mucopolysacchariduria)
- cathepsin A in leukocytes