Symptoms & Signs
- 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
Diagnosis & Tests
There may be damage to the retina of the eye (retinitis pigmentosa).
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.
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Bassen-Kornzweig syndrome : Overview, Causes, & Risk Factors
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Bassen-Kornzweig syndrome : Symptoms & Signs, Diagnosis & Tests
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Bassen-Kornzweig syndrome : Treatment
Review Date : 8/11/2009
Reviewed By : Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed HealthcareNetwork. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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