Bassen-Kornzweig syndrome - Symptom
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:
Genetic testing may be available for mutations in the MTP gene.
- Reviewed last on: 6/24/2007
- Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.
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.