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)
Exams and Tests
A physical examination 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
- Serum chemistry, uric acid
- Urine chemistry, uric acid
- Skin biopsy tissue culture (fibroblasts)
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