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May 1953

CYSTINOSIS: Report of Two Cases with Postmortem Examination

Author Affiliations

From the Departments of Pediatrics and Pathology, St. Luke's Hospital.

AMA Am J Dis Child. 1953;85(5):531-544. doi:10.1001/archpedi.1953.02050070546002

THE FIRST case of cystinosis was recorded by Abderhalden and Kaufmann in 1903.1 No other cases were reported until 1924, when Lignac reported two, and in 1925, when he added another.2 Some writers refer to the condition as Lignac's disease. Ten years later, in 1935, Benoit's case was published,3 and since that time there were 13 more, which makes a total of 18. None of these were in America.

Fourteen of the 18 cases came to postmortem examination. Our two are the 15th and 16th cases with postmortem examinations and the first to be reported in the United States (Table 1).4

REPORT OF CASES  Case 1.—Jacqueline M. was first admitted to St. Luke's Hospital on Aug. 24, 1942, at the age of 3½ years. The admission history as obtained from the mother is related with some detail because it is thought to be

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