A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation.
- Author:
Byung Woon KWON
1
;
Kyung Hee HYUN
;
Jin Hyung HAN
;
So Mi KIM
;
Sang Seok LEE
;
Young Kwang CHOO
;
Eun Kyoung LEE
Author Information
1. Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea. nephrologylek@hanmail.net
- Publication Type:Case Report
- Keywords:
Lesch-Nyhan;
Hypoxanthine-guanine phosphoribosyltransferase (HPRT);
Gout;
Self-mutilation
- MeSH:
Arthritis, Gouty;
Cerebral Palsy;
Gout;
Hyperuricemia;
Hypoxanthine Phosphoribosyltransferase;
Intellectual Disability;
Korea;
Lesch-Nyhan Syndrome;
Muscle Spasticity;
Neurologic Manifestations;
Renal Insufficiency
- From:Korean Journal of Nephrology
2009;28(1):58-62
- CountryRepublic of Korea
- Language:Korean
-
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.
