A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

Abstract

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.