Three Cases of Lesch-Nyhan Syndrome: Cases report.
- Author:
Yong Beom SHIN
1
;
Ji Eui HAN
;
Kyung Min KIM
;
Song Hyun YANG
;
Dae Seong IM
Author Information
1. Department of Rehabilitation Medicine, Pusan National University College of Medicine, Korea. vega@medimail.co.kr
- Publication Type:Case Report
- Keywords:
Lesch-Nyhan syndrome;
Hypoxanthine-guanine phosphoribosyltransferase;
Self mutilation
- MeSH:
Cerebral Palsy;
Early Diagnosis;
Hyperuricemia;
Hypoxanthine Phosphoribosyltransferase;
Intellectual Disability;
Kidney;
Lesch-Nyhan Syndrome*;
Muscle Spasticity;
Nephrolithiasis;
Neurologic Manifestations;
Renal Insufficiency;
Self Mutilation;
Self-Injurious Behavior
- From:Journal of the Korean Academy of Rehabilitation Medicine
2005;29(6):673-677
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Lesch-Nyhan syndrome is a rare X-linked recessive metabolic disorder characterized by developmental delay, hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This syndrome is often misdiagnosed to cerebral palsy and clinical manifestations are usually related to the degree of enzyme deficiency. Complete HGPRT deficiency presents with severe specific neurologic manifestation and nephrolithiasis leading to fatal kidney damage. This report highlighted the importance of clinical awareness leading to early diagnosis and therapy for prevention of the self mutilation and renal failure, even if we couldn't inhibit the progression of neuro-psychotic symptoms.
