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Bassen-Kornzweig syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Symptoms:

• Balance and coordination difficulties
• Curvature of spine
• Decreased vision that gets worse over time
• Developmental delay
• Failure to thrive (grow) in infancy
• Muscle weakness
• Poor muscle coordination that usually develops after age 10
• Protruding abdomen
• Slurred speech
• Stool abnormalities, including:
  • Fatty stools that appear pale in color
  • Frothy stools
  • Abnormally foul-smelling stools

Signs and tests:

Tests that may be done to help diagnose this condition include:

• Apolipoprotein B blood test
• Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K)
• Complete blood count (CBC)
• Cholesterol studies
• Electromyography
• Eye exam
• Nerve conduction velocity
• Stool sample analysis

Genetic testing may be available for mutations in the MTP gene.

References:

Rodriguez-Oquendo A, Kwiterovich Jr PO. Dyslipidemias. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn metabolic diseases: diagnosis and treatment. Germany: Springer; 2006:400-401.

• Review Date: 6/24/2007
• Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.

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