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A 26-year old male suffered from Abetalipoproteinemia (Bassen-Kornzweig disease). In addition to C.N.S. lesions, he had myopathy. A muscle biopsy revealed accumulation of ceroid pigment in the striated muscle. A few muscle fibers showed severe degeneration of the myofibrils. Fibroblasts and macrophages in the interstitial tissue contained.
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Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy.
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Bassen-Kornzweig syndrome Abetalipoproteinemia (ABL) is a rare, autosomal recessive lipid storage disorder resulting from defective lipid assembly within the intestinal mucosa. It is characterized by.
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Abetalipoproteinaemia is also known as Bassen Kornzweig syndrome; Microsomal triglyceride transfer protein deficiency disease; Microsomal triglyceride transfer protein deficiency. This is a very rare conditions with 100 cases described worldwide. The condition is characterized by the inability to absorb dietary fats, cholesterol and fat soluble.
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