Bassen-Kornzweig syndrome

Alternative Names

Treatment

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

To avoid intestinal symptoms, persons with this syndrome should not eat long-chain triglycerides and limit fat intake to 5 - 20 grams per day. The diet should contain no more than 5 daily ounces of lean meat, fish, or poultry. Use skim milk instead of whole milk.

Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, typically under the supervision of a doctor or nutritionist. They should be used with caution because they may cause liver damage.

Outlook (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.

Possible Complications

• Blindness
• Mental deterioration
• Loss of function of peripheral nerves, ataxia

When to Contact a Medical Professional

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

References

Rodriguez-Oquendo A, Kwiterovich Jr PO. Dyslipidemias. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn metabolic diseases: diagnosis and treatment. Germany: Springer; 2006:400-401.