A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation / 대한신장학회지
Korean Journal of Nephrology
;
: 58-62, 2009.
Article
Dans Coréen
| WPRIM
| ID: wpr-52381
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Goutte articulaire
/
Paralysie cérébrale
/
Hyperuricémie
/
Insuffisance rénale
/
Goutte
/
Hypoxanthine phosphoribosyltransferase
/
Corée
/
Syndrome de Lesch-Nyhan
/
Déficience intellectuelle
/
Spasticité musculaire
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Korean Journal of Nephrology
Année:
2009
Type:
Article
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