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Thursday, November 1, 2007

Bassen - Kornzweig Syndrome

· Autosomal recessive beta-lipoprotein deficiency
· Inability to form normal chylomicrons in the intestinal mucosa
· Diarrhea, steatorrhea, failure to thrive
· Retinitis pigmentosa
· Ataxia, hyporeflexia, muscle weakness
· Vitamin A and E deficiency
· Electrolyte abnormalities
· Exaggerated response to muscle relaxants

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