Hereditary Choreoathetosis, Self-Mutilation and Hyperuricemia in Young Males

Abstract

IN 1964 Lesch and Nyhan¹ described a syndrome in 2 young brothers, characterized by a nervous-system disorder dating from early infancy, a behavioral abnormality manifested by self-mutilation and a consistent elevation of the levels of uric acid in blood and urine. Single cases conforming to this syndrome had previously been reported by Catel and Schmidt² and Riley,³ and, since the paper of Lesch and Nyhan, another report of the syndrome in a young boy has appeared.⁴ The present paper is concerned with a description of clinical, biochemical and genetic features in 2 further families with boys suffering from this syndrome. . . .