Lesch-Nyhan syndrome
Symptoms:
- family history of Lesch-Nyhan syndrome
- male infant with delayed motor development
- movement disorder
- destructive chewing of fingers or lips (self-destructive behavior)
Signs and tests:
Physical examination and testing may show: - hyperreflexia
- spasticity
- choreoathetoid movements
- compulsive self-destructive behavior
- increased serum uric acid
- increase excretion of uric acid, urine
- decreased HGP levels in cultured fibroblasts
Tests:
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