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Case Reports |

GENERALIZED LIPOIDOSIS IN A CASE OF AMAUROTIC FAMILIAL IDIOCY

CHARLES DAVISON, M.D.; SHELDON A. JACOBSON, M.D.
Am J Dis Child. 1936;52(2):345-360. doi:10.1001/archpedi.1936.04140020088009.
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Amaurotic familial idiocy, a well defined clinical and pathologic entity, is considered by most observers to be a disease resulting from a disturbance in the phospholipoid metabolism. In contrast, however, to Niemann-Pick's disease, in which there is a generalized lipoid histiocytosis, striking visceral changes have not been demonstrated in amaurotic familial idiocy. In the case to be described, though the condition was characteristic in all respects of the infantile type of amaurotic familial idiocy, the patient showed, in addition to the typical changes of the central nervous system deposits of lipoid in the visceral organs.

REPORT OF CASE  S. N., a Jewish boy aged 19 months, was admitted to the pediatric service of Dr. J. Sobel of the Hospital for Joint Diseases on Dec. 24, 1931, because of apathy, weakness and blindness. The baby had developed normally for the first five months of his life. He then became torpid and

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