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September 1969

The Pathological Condition of the Lesch-Nyhan Syndrome: Report of Two Cases

Author Affiliations

Kingston, Ontario, Canada
From the Department of Pathology, Queen's University and Kingston General Hospital, Kingston, Ontario, Canada.

Am J Dis Child. 1969;118(3):501-506. doi:10.1001/archpedi.1969.02100040503016

THE SYNDROME of hyperuricemia, self-destructive biting, mental retardation, and motor dysfunction is sometimes referred to as the Lesch-Nyhan syndrome, because awareness of the specificity of this association followed the clinical description of two affected brothers by Lesch and Nyhan1 in 1964. It is apparent, however, that previous cases had been recorded by Catel and Schmidt2 in 1959, and Riley3 in 1960. This condition is quite rare, as can be deduced from the fact that only about 15 cases of "gout" in children under 10 years of age had been reported between the early 1920's and 1965.4 Despite its rarity, it has justifiedly received increasing attention in recent years. Encouraging initial therapeutic trials reported by Jeune et al5 promise the possibility of effective control by suitable therapeutic measures, at least to the extent that this has been possible in other inborn errors of metabolism. These considerations,