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February 1967

Hyperuricemia and Mental Retardation: With Athetosis and Self-Mutilation

Author Affiliations

From the Department of Pediatrics, the Cleveland Clinic Foundation.

Am J Dis Child. 1967;113(2):195-206. doi:10.1001/archpedi.1967.02090170059003

HYPERURICEMIA associated with mental retardation, bilateral dystonic-like movements, and self-mutilation, namely lip-biting and finger-biting, is a newly recognized syndrome.1-6 The relationship between the elevated values of blood uric acid, and the pathophysiology of the syndrome is not known. The investigations of Lesch and Nyhan1 in two brothers with the syndrome revealed increased urinary uric acid excretion, an increased uric acid pool, and an increased incorporation of labeled glycine into uric acid when given intravenously.

This report describes the syndrome in further detail, and correlates the experiences observed after treating six patients with the uricosuric drug probenecid.

Report of Cases  Case 1.—This 6½-year-old boy was first examined at the Cleveland Clinic at the age of 2½ years, on Oct. 30, 1959, because, according to the parents "the child has cerebral palsy." The father and mother were healthy and are not related to each other. No gout was present in

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