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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.




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