Bassen-Kornzweig syndrome

Definition

Bassen-Kornzweig syndrome is a rare disease passed down through families in which a person is unable to fully absorb dietary fats through the intestines.

Alternative Names

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Causes

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.

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

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)
• 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.

Treatment

Treatment involves large doses of vitamin supplements containing fat-soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K)

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 - 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 doctor or nutritionist. They should be used with caution, because they may cause liver damage.

Outlook (Prognosis)

How well a patient does depends on the amount of brain and nervous system problems.

Possible Complications

• Blindness
• Mental deterioration
• Loss of function of peripheral nerves, uncoordinated movement (ataxia)

When to Contact a Medical Professional

Call your health care 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 patient.

Prevention

High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.

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. Heidelberg, Germany: Springer; 2006:400-401.

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