Bassen-Kornzweig syndromeAbetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines.
Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein). The defect makes it hard for the body to properly digest fat and essential vitamins.
It is an autosomal recessive condition that more often affects males.
- 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, and abnormally foul-smelling stools
Exams and 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)
- "Burr-cell" malformation of the red cells (acanthocytosis)
- Complete blood count (CBC)
- Cholesterol studies
- Eye exam
- Nerve conduction velocity
- Stool sample analysis
Genetic testing may be available for mutations in the MTP gene.
Linoleic acid supplements are also recommended.
People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. This involves:
- Limiting fat intake to 5 to 20 grams per day.
- Do not eat more than 5 ounces daily of lean meat, fish, or poultry.
- Use skim milk instead of whole milk.
Supplements of medium-chain triglycerides are taken under the supervision of a health care provider. They should be used with caution, because they may cause liver damage.
How well a person does depends on the amount of brain and nervous system problems.
Complications may include:
- Mental deterioration
- Loss of function of peripheral nerves, uncoordinated movement (ataxia)
When to Contact a Medical Professional
Call your provider if your infant or child has symptoms of this disease. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the person.
High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.
Kliegman RM, Stanton BF, St Geme JW III, Schor NF. Defects in the metabolism of lipids. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.