Abstract
Two siblings presenting with short stature and severely retarded skeletal maturation were found to have steatorrhea, retinitis pigmentosa, night blindness, and loss of posterior column function. The finding of acanthocytosis in the peripheral blood smear, low levels of all serum lipid fractions, and complete absence of betalipoproteins on electrophoresis confirmed the diagnosis of abetalipoproteinemia. Vitamin A levels were low and free Vitamin E was absent in serum. Electron microscopic examination of duodenal biopsy did not clarify the site on mechanism of fat malabsorption. Lipid studies in immediate relatives could not establish a heterozygous trait, though the majority of relatives had a prominent beta or pre-beta band on lipoprotein electrophoresis. The resemblance in physical appearance to hypopituitarism prompted an extensive endocrine evaluation. Thyroid indices and growth hormone responses to arginine and insulin stimulation were normal. Urinary 17 OHCS were in the low range of normal and the cortisol secretion rates were one and two standard deviations below the mean. These latter studies excluded endocrine abnormality as the cause of short stature which is best explained on the basis of prolonged malabsorption and malnutrition.
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