PEDIATRICS Vol. 14 No. 5 November 1954, pp. 462-467
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A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

JOHN H. MENKES M.D.1, PETER L. HURST M.D.1, and JOHN M. CRAIG M.D.1

1 The Departments of Pediatrics and Pathology, Children's Medical Center and the Harvard Medical School, Boston.

Four cases of a syndrome involving a rapidly progressive cerebral dysfunction and commencing during the first week of life are reported. In each of these cases the urine excreted had a peculiar odor resembling that of maple syrup. The pathogenesis of this condition is unexplained, although some anomaly of cerebral metabolism seems to be the most likely cause of the syndrome.

Submitted on June 29, 1954




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