Korean J Nephrol.  2009 Jan;28(1):58-62.

A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation

Affiliations
  • 1Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea. nephrologylek@hanmail.net

Abstract

Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The underlying defect is a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). We report on a fourteen-year-old boy, who manifested gouty arthritis and mild renal insufficiency with Lesch-Nyhan disease, lacking self-mutilative behavior in spite of undetectable HPRT activity. Though there were several reports about some cases of Lesch-Nyhan disease in the past Korean literature, the cases were classic forms with definite neurological manifestation. As far as we know, this is the first case of Lesch-Nyhan disease without self-mutilation in Korea.

Keyword

Lesch-Nyhan; Hypoxanthine-guanine phosphoribosyltransferase (HPRT); Gout; Self-mutilation

MeSH Terms

Arthritis, Gouty
Cerebral Palsy
Gout
Hyperuricemia
Hypoxanthine Phosphoribosyltransferase
Intellectual Disability
Korea
Lesch-Nyhan Syndrome
Muscle Spasticity
Neurologic Manifestations
Renal Insufficiency
Hypoxanthine Phosphoribosyltransferase
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