J Korean Acad Rehabil Med.  2005 Dec;29(6):673-677.

Three Cases of Lesch-Nyhan Syndrome: Cases report

• Shin YB
• Han JE
• Kim KM
• Yang SH
• Im DS

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.

Keyword

Lesch-Nyhan syndrome; Hypoxanthine-guanine phosphoribosyltransferase; Self mutilation

MeSH Terms

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
Hypoxanthine Phosphoribosyltransferase