Galactosialidosis. Congenital form. Combined alpha-neuraminidase and beta-galactosidase deficiency.
Incidence
Autosomal recessive disease. Similar phenotype than Sialidosis II congenital form.
Clinical Characteristics
In this form, infants present at birth with hydrops fetalis, hepatosplenomegaly, skeletal dysplasia, ocular abnormalities and telangectasic skin rash. Infants are either still born or live a few weeks. There is excretion of sialylated oligosaccharides in urine and a marked deficiency of the activity of alpha neuraminidase and beta-galactosidase. No treatment is available.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. There is excretion of sialylated oligosaccharides in urine and a marked deficiency of the activity of alpha-neuraminidase and beta-galactosidase.