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Bassen-Kornzweig syndrome 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:
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:
Call Your Healthcare Provider:
Call if your infant or child exhibits symptoms of this disease.
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