Abetalipoproteinemia (Bassen-Kornzweig disease)
Incidence
Uncommon. AR disease inheritance. It is characterized by absence of very low density lipoproteins (VLDLs) and low density lipoproteins (LDLs) (Beta-lipoproteins)
Clinical Characteristics
There are problems with absorcion of vitamin E. It usually start with symptoms of fat malabsorption: steatorrhea, bulky stools, abdominal distention and vomiting which improve after a few years. Retinal lesion (pigmentary retinal degen.) decrease Visual Acuity, night blindness, absent ERG, low serum cholesterol, acanthocytosis in blood smear, . Diffuse weakness, ataxia, upward gaze palsy, short stature, denerv in EMG, slow NCV. Diffuse arreflexia also present. Decrease position sense. There is usually severe deficiency of vitamin E. It may resemble Friedreich disease.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
Low cholesterol and triglycerides in blood, lack of beta-lipoproteins, loe serumfat soluble vitamins (A, E, K) blood smear