Three Cases of Lesch-Nyhan Syndrome: Cases report
Journal of the Korean Academy of Rehabilitation Medicine
; : 673-677, 2005.
Article
in Ko
| WPRIM
| ID: wpr-723809
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Self Mutilation
/
Cerebral Palsy
/
Self-Injurious Behavior
/
Hyperuricemia
/
Early Diagnosis
/
Renal Insufficiency
/
Nephrolithiasis
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Hypoxanthine Phosphoribosyltransferase
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Kidney
/
Lesch-Nyhan Syndrome
Type of study:
Diagnostic_studies
/
Screening_studies
Language:
Ko
Journal:
Journal of the Korean Academy of Rehabilitation Medicine
Year:
2005
Type:
Article