[Lesch-Nyhan syndrome in dizygotic twins].

Abstract

Lesch-Nyhan syndrome is an inborn error of purine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who developed dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries.