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Bassen-Kornzweig syndrome
Definition:
Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves.

Alternative Names:
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Causes, incidence, and risk factors:

Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).

The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein) including low-density lipoproteins (LDL), very-low-density lipoproteins (VLDL), and chylomicrons (small molecules of fat in the blood).

People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination (ataxia), and other nerve disorders.
Symptoms:
Signs and tests:
  • CBC that shows abnormally shaped red blood cells (thorny appearance)
  • Cholesterol studies, including total cholesterol that shows low levels VLDL and LDL
  • Stool collection that shows elevated fat levels
  • Low levels of fat-soluble vitamins such as Vitamins A,D,E or K
  • Ophthalmology exam shows retinal degeneration
  • Absent or low apolipoprotein B levels in blood
  • Genetic testing may be available for mutations in the APOB or MTP genes
  • EMG or nerve conduction velocity testing may show demyelination of peripheral nerves
Treatment:

Consult a nutritionist or other medical professional for dietary teaching. Large doses of vitamin supplements containing the fat-soluble vitamins (Vitamin A, Vitamin D, Vitamin E and Vitamin K) are given.

To avoid intestinal symptoms, avoid eating long-chain triglycerides. The fat in the diet should come from medium-chain triglycerides since they are absorbed from the gut differently than most other fats.

The diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk.
Expectations (prognosis):
The outcome is related to the degree and progression of neurological and visual problems. Severe forms of the disease lead to irreversible neurologic disease before age 30.
Complications:
  • Blindness
  • Mental deterioration
  • Loss of function of peripheral nerves, ataxia
Calling your health care provider:
Call if your infant or child exhibits symptoms of this disease.
Prevention:
High doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina and decreased vision.
Review Date: 10/30/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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