All issues > Volume 46(5); 2003

Case Report

J Korean Pediatr Soc. 2003;46(5):505-509. Published online May 15, 2003.

A Case of Lesch-Nyhan Syndrome

Joon-Sung JS Kim¹, Jae-Seung JS Lee², Ha-Young HY Noh¹, Byung-Ju BJ Kim¹, Young-Jong YJ Woo¹, Jee-Min JM Park², Myung-Gwan MG Kim², Gu-Hwan GH Kim³, Han-Wook HW Yoo³

¹Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
²Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea
³Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea

Correspondence Joon-Sung JS Kim ,Email: drkimjs@hanmail.net

Abstract

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

Keywords :Lesch-Nyhan syndrome, Hypoxanthine guanine phosphoribosyl transferase(HPRT) gene, Hyperuricemia, Nephrolithiasis