si·al·i·do·sis (s - l  -d  ss) |
sialidosis
[sī′əlidō′sis]
a neuronal storage disease of children caused by a deficiency of the enzyme sialidase (neuraminidase). The condition is characterized by a cherry-red spot on the macula, progressive myoclonus, and seizures. There are two types. Type 1 patients have normal physical features and beta-galactosidase levels. Type 2 patients also have short stature, bony abnormalities, and beta-galactosidase deficiency.
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