eSanatos - sanatatea ta e preocuparea noastra!
    Cauta in site
NutritieBoli
                 Home | Creeaza cont nou | Login membri


Diseases

NAVIGARE RAPIDA: » Pagina principala » GHID MEDICAL » termeni medicali » diseases

Ml i (mucolipidosis i; lipomucopolysaccharidosis; dysmorphic sialidosis; spranger syndrome)


ML I (Mucolipidosis I; Lipomucopolysaccharidosis; Dysmorphic Sialidosis; Spranger Syndrome)

General: Rare storage disease; autosomal recessive; increased sialic acid and defici 343i88d ency of the enzyme alpha-N-acetylneuraminidase in cultured mucolipidosis I fibroblasts.

Ocular: Variable corneal clouding; macular cherry-red spot; optic atrophy; lens opacity; pupillary reflexes anomaly; grayish area around cherry-red spot.

Clinical: Moderate progressive mental retardation; skeletal changes of dysostosis multiplex; peripheral neuropathy; myoclonic jerks; tremor; cerebellar signs; gait abnormalities.

Carta F, et al. Mucolipidosis 1: ocular signs in three sisters. Metab Ophthalmol 1985; 8:21-27.

Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.

Shinkai H, et al. Connective tissue naevus with pseudo-Hurler polydystrophy. Br J Dermatol 1994; 130:528-533.




Alte materiale medicale despre: diseases

Kuru Syndrome (Laughing Death) Genera [...]
Hutchinson Syndrome (Adrenal Cortex Neuroblastoma with Orbital Metastasis; Pepper Syndrome) General: Metastatic infraorbital neuroblastoma af [...]
Benjamin-Allen Syndrome   & [...]

Copyright © 2010 - 2024 : eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii -
Confidentialitatea datelor - Contact



Despre diseases

    Alte sectiuni

    Ai o problema medicala?
    Daca vrei raspunsuri scrie intrebarea mai jos:

    Unde se incadreaza problema medicala?

    Scrie codul din imaginea alaturat

    Vezi toate intrebarile