| sialidosis | <syndrome> A neuronal storage disorder in children characterised by a cherry red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type 1 is characterised by normal body habitus, cherry red macula, myoclonus, and normal beta-galactosidase levels; type 2 by short stature, bony abnormalities, and deficient beta-galactosidase. Synonym: sialidosis. (05 Mar 2000) |
|---|
| sialidosis |
an autosomal recessive disorder due to a deficiency of sialidase, occurring as two types with differing manifestations. 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 facies, and dysostosis multiplex. It occurs as several variants of increasing severity with earlier age of onset; that of infantile onset is characterized also by visceromegaly and mental retardation, and the congenital form is additionally characterized by ascites, hydrops fetalis, facial edema, inguinal hernias, and early death. Cases of a juvenile form have been shown to be galactosialidosis (q.v.)
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|