Lesch-Nyhan syndrome

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• Family history of Lesch-Nyhan syndrome
• Male infant with delayed motor development
• Movement disorder
• Destructive chewing of fingers or lips (self-destructive behavior)

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)

Review Date: 06/13/2006
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

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