Abstract
Light and electron microscopic studies have been carried out on brain and white bloodcells from a patient with juvenile amaurotic idiocy. A variety of lipid inclusions, including both "multilamellar cytosomes" and "fingerprint" inclusions, were present in the brain, suggesting that these 2 morphologic types of inclusions may not always define separate metabolic disorders. In the lymphocytes, ultrastructurally striking lamellar cytoplasmic inclusions were found. Such inclusions have not previously been described in this disorder. The demonstration of these inclusions by electron microscopy may prove to be a distinctive and relatively simple diagnostic marker of the disease, or at least of the "type" of late-onset amaurotic idiocy present in this patient.
Published Version
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