Feb. 23, 2023
Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.
This girl presented with typical characteristics of the disease: global developmental delay, self-mutilation, hyperuricemia, hypotonia, speech delay, spasticity, and seizures. (Source: AlBakheet A, AlQudairy H, Alkhalifah J, Almoaily S, Kaya N, Rahbeeni Z. Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome. Front Genet 2023;13:1044936. Creative Commons Attribution License [CC BY], https://creativecommons.org/licenses/by/4.0.)