Bassen-Kornzweig syndrome
Alternate Names : Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B deficiency
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: Genetic testing may be available for mutations in the MTP gene.
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