Bassen-Kornzweig syndrome

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Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

• Failure to thrive (grow) in infancy
• Fatty stools that appear pale in color
• Frothy stools
• Abnormally foul-smelling stools
• Protruding abdomen
• Developmental delay
• Poor muscle coordination that usually develops after age 10
• Muscle weakness
• Slurred speech
• Curvature of spine
• Progressive decreased vision
• Balance and coordination difficulties

• CBC (complete blood count) that shows abnormally shaped red blood cells (thorny appearance)
• Cholesterol studies, including total cholesterol that shows low levels of VLDL and LDL
• Stool collection that shows elevated fat levels
• Low levels of fat-soluble vitamins such as vitamins A, D, E, or K
• Ophthalmology exam showing retinal degeneration
• Absent or low apolipoprotein B levels in blood
• Genetic testing may be available for mutations in the APOB or MTP genes
• EMG or nerve conduction velocity testing may show demyelination of peripheral nerves

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.