1983 Volume 25 Issue 12 Pages 1986-1990_1
The patient is a 34 year-old male with complaints of weight loss and diarrhea. Laboratory tests revealed the following results ; numerous acanthocytes in the peripheral blood smear, serum cholesterol, 60 mg/dl (normal, 113-233), triglyceride, 8 mg/dl (normal, 66-213). Electrophoretically recognizable beta- and pre-beta-lipoprotein were absent, and the diagnosis of abetalipoproteinemia was confirmed by demonstrating the lack of Apo-B in the serum by immunoelectrophoresis. Roentgenographic examination of upper gastrointestinal tract revealed no specific findings. But endoscopically the duodenal mucosa showed a diffuse whitish discoloration beginning at the second portion of the duodenum and continued up to the end of the duodenum. Duodenal biopsy revealed the accumulation of fat droplets in the epithelial cells at the sides and tips of the villi. Electron microscopic examination revealed that no changes in microvilli, mitochondria and endoplasmic reticulum of duodenal epithelial cells. Fat malabsorption and lactose intolerance were found, but serum Vitamin A, D, E and B12 were almost normal. Abetalipoproteinemia is a very rare, recessively inherited disease. We reported one patient with abetalipoproteinemia and evaluated his gastrointestinal abnormality func-tionally and morphologically.
