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Bassen-Kornzweig syndrome

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

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

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.

Symptoms

Symptoms include:

  • 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:

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 may involve limiting intake of some types of fat.

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.

Outlook (Prognosis)

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

Possible Complications

Complications may include:

  • Blindness
  • 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.

Prevention

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

References

Branski D. Disorders of malabsorption. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 338.

Kliegman RM, Stanton BF, St. Geme JW, Schor NF. Defects in the metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.

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        Review Date: 8/6/2017

        Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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