Lesch-Nyhan syndrome

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

• 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.