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.
sialidosis [si-al″ĭ-do´sis]
an autosomal recessive disorder due to a deficiency of sialidase; there are two different types: Type I is of adolescent or adult onset and is characterized by myoclonus, ocular cherry red spot with progressive loss of visual acuity, and storage of sialyloligosaccharides. Type II is additionally characterized by somatic abnormalities, coarse facial features, and dysostosis multiplex and occurs as several variants of increasing severity with earlier age of onset; the one in neonates is accompanied by ascites, facial edema, inguinal edema, and early death; the one in infants is accompanied by visceromegaly and mental retardation; and a juvenile form is better characterized as galactosialidosis.
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