Alternate Names: Abetalipoproteinemia

Causes and Risks:
Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). 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:

• failure to thrive (grow) in infancy
• fatty stools that appear pale in color
• frothy stools
• abnormally foul-smelling stools
• protruding abdomen
• developmental delay
• ataxia (poor muscle coordination) that usually develops after age 10
• muscle weakness
• slurred speech
• curvature of spine

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
• ophthalmology exam shows inflammation of the back of the eye (retinitis)

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.

Prognosis: The outcome is related to the degree and progression of neurological and visual problems.

Complications:

• blindness
• mental deterioration

Call if your infant or child exhibits symptoms of this disease.