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

Bassen-kornzweig syndrome (abetalipoproteinemia; acanthocytosis; familial hypolipoproteinemia)    126


Bassen-Kornzweig Syndrome (Abetalipoproteinemia; Acanthocytosis; Familial
Hypolipoproteinemia)   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   &n 959i87j bsp;   



126

General: Inability to absorb and transport lipids; predominant in males; autosomal recessive inheritance; acanthocytosis, a peculiar burr cell malformation of the red blood cells; the basic defect is thought to be an inability to synthesize the apolipoprotein B peptide of low-density and very-low-density lipoproteins.

Ocular: Ptosis (may be present); nystagmus; progressive external ophthalmoplegia; retinitis pigmentosa (usually atypical); retinopathy develops with age after 10 to 14 years; optic atrophy occasionally; epicanthal folds; cataract; optic nerve pallor; hypopigmentation of retina; macular degeneration; dyschromatopsia.

Clinical: Steatorrhea; hypocholesterolemia; neurologic disorder with ataxia (similar to Friedreich ataxia); areflexia; Babinski sign; muscle weakness (facial, lingual; proximal and distal); slurred speech; lordosis; kyphosis.

Adams RD, Victor M. Bassen-Kornzweig acanthocytosis. In: Adams RD, Victor M, eds. Principles of Neurology, 5th ed. New York: McGraw-Hill, 1993:830.

Bassen FE, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950; 5:381.

Carr RE. Abetalipoproteinemia and the eye. Birth Defects 1976; 12:385-408.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.



Rowland LP, Pedley TA. Abetalipoproteinemia. In: Rowland LP, ed. Merritt’s Textbook of Neurology, 9th ed. Philadelphia: Williams & Wilkins, 1995:594-595.

Yee RD, et al. Atypical retinitis pigmentosa in familial hypobetalipoproteinemia. Am J Ophthalmol 1976; 82:64-71.




Alte materiale medicale despre: diseases




Polymyalgia Rheumatica [...]
Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothel [...]
Sipple Syndrome (Multiple Endocrine Neoplasia 2 or 2A; Multiple Endocrine Adenomatosis 2 or 2A; Familial Chromaffinomatosis; Multiple Neuroma; Pheo [...]


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