Lesch-Nyhan Syndrome in Two Brothers: Why Early Diagnosis is Essential

Abstract

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by the absence of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT).^1,2 The prevalence of LNS is estimated to be one in 10, 000 males. ³ In many cases, affected males inherit the mutant allele from asymptomatic carrier mothers. In other patients whose mothers are not carriers, the disease results from spontaneous mutations. New mutations may account for as many as one third of cases. LNS is characterized clinically by hyperuricemia, growth impairment, choreoathetosis, spasticity, mental retardation, and self-mutilation. The disease is usually diagnosed at the onset of self-mutilatory behavior. We report two brothers with LNS whose history typifies the diagnostic difficulties of this syndrome.