Abetalipoproteinemia Bassen Kornzweig Syndrome

This autosomal recessive lipid disorder develops clinically in the first decade of life with steatorrhea, distal sensorimotor neuropathy, and retinitis pigmentosa. Ataxia, dysarthria, areflexia, and ophthalmoparesis may also develop. y Serum cholesterol levels are low, betalipoproteins are low or absent, and erythrocytes take on the appearance of acanthocytes. Ihe primary metabolic defect relates to the inability to synthesize betalipoprotein, the major protein of chylomicrons and very low density lipoproteins. Because of the reduced chylomicrons, severe deficiencies of fat-soluble vitamins, namely A, K, and E, occur. Systemic signs can include cardiomyopathy. Ihe differential diagnosis includes disorders that have combined neuropathy and ataxia, and include Friedreich's disease and the hereditary sensorimotor neuropathies. Laboratory analysis and EMG studies suggesting axonal neuropathy are helpful in directing the clinician. y Ihe differential diagnosis also includes those disorders with acanthocytes, namely neuroacanthocytosis, although typically the latter disorder has tics and dystonia rather than profound neuropathy and ataxia. Finally, the differential diagnosis includes all conditions associated with vitamin E deficiency because neurological abnormalities in Bassen-Kornsweig disease resemble vitamin E deficiency in other situations.

Ihere is strong evidence, both clinically and in the laboratory, that the neurological findings relate directly to vitamin E deficiency. Vitamin E supplementation can arrest the progression of both retinal and neurological deficits. y Other dietary treatments are important to overall rehabilitation status and include restricted intake of long-chain fats and substitution with polyunsaturated fats to reduce fatty diarrhea and improve nutrition.

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