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NEUROLOGY 1985;35:907
© 1985 American Academy of Neurology

Lesch-Nyhan syndrome

CSF neurotransmitter abnormalities

Faye S. Silverstein, MD, Michael V. Johnston, MD, Raymond J. Hutchinson, MD and N. Lawrence Edwards, MD

Departments of Pediatrics (Drs. Silverstein and Hutchinson) and Neurology (Dr. Johnston), University of Michigan, Ann Arbor; and the Department of Medicine (Dr. Edwards). University of Florida and the Veterans Administration Hospital, Gainesville, FL.

Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients. A rapid decline in control spinal fluid HVA and 5-HIAA occurs over the first 3 years of life (50 and 60%, respectively), and a more gradual decline persists throughout adolescence. The Lesch-Nyhan subjects have similar age-related changes in their spinal fluid neurotransmitter levels. Sequential 5-HIAA determinations from the four Lesch-Nyhan boys fall within the control range. The Lesch-Nyhan HVA levels are lower than the mean value for the age-matched control group in 18 of 19 samples. Ten of 19 determinations fell below the control range. Our findings provide evidence for altered CNS dopamine metabolism in the Lesch-Nyhan syndrome.

Address correspondence and reprint requests to Dr. Edwards, Box 5–277, J. Hillis Miller Health Center, Gainesville, FL 32610.

Supported by the general Clinical Research Center grant to the University of Michigan as well as NIH grants AM00817 and AM20557 and a grant from the Children's Leukemia Foundation of Michigan. F. S. S. is a postdoctoral fellow of the Medical Research Council of Canada. M. V. J. is the recipient of a TIDA. KO7NS 00603. N. L. E. is a recipient of a Clinical Investigator Award from the NIH.

Presented in part at the Child Neurology Society Meetings, Williamsburg. VA, October 1983.

Accepted for publication October 1, 1984.




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