Bassen-Kornzweig syndrome
Alternative Names
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiencySymptoms
- 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
Exams 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.
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