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Case Reports
August 1936

GENERALIZED LIPOIDOSIS IN A CASE OF AMAUROTIC FAMILIAL IDIOCY

Author Affiliations

NEW YORK
From the Neuropathological Laboratory, Montefiore Hospital, and the Laboratory Division of the Hospital for Joint Diseases.

Am J Dis Child. 1936;52(2):345-360. doi:10.1001/archpedi.1936.04140020088009
Abstract

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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