| Subject | Contents |
| 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 | 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 weaknessSlurred speech Curvature of spine Progressive decreased vision Balance and coordination difficulties (ataxia) |
| Signs and tests | CBC that shows abnormally shaped red blood cells (thorny appearance) Cholesterol studies, including total cholesterol that shows low levels LDL '>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. |
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| 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. |
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