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October 1951

CYSTINOSIS (CYSTINE-STORAGE DISEASE): Report of a Case with Chemical Isolation and Quantitative Determination of Cystine in Lymph Nodes, Spleen, and Liver

Author Affiliations

From the Departments of Pathology, Emory University School of Medicine, Emory University and Grady Memorial Hospital.

AMA Am J Dis Child. 1951;82(4):446-455. doi:10.1001/archpedi.1951.02040040464007

CYSTINOSIS is an unusual disorder in which cystine crystals are deposited throughout the body, especially in the cells of the reticuloendothelial system. Twenty cases have been reported in the literature, 16 of which were studied by autopsy. The disease has been briefly mentioned in the literature on "resistant rickets," cystinuria, and the Fanconi syndrome. Only two cases have been reported from this country.1 The literature prior to 1943 has been reviewed by McCune and others2 and has been recently summarized by Rapaport3 and Freudenberg.4

Cystinosis was first described by Abderhalden and Kaufmann, cited by McCune and others,2 in 1903. Lignac5 observed the second case in 1924. Since 1940 eleven cases have been recorded, and in eight of these the diagnosis was made clinically. The disease has been studied extensively in Europe by Fanconi and Bickel6 and Hottinger7 but apparently has not been

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