Bassen-Kornzweig syndrome

  • Definition
    • Bassen-Kornzweig syndrome is a rare disease passed down through families. The 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
    • 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
  • 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 to 20 grams per day.
      • Do not eat more than 5 ounces daily (140 grams) 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.

  • 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
    • 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.