1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-37-b 10.15844/pedneurbriefs-2-5-9 Movement Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Lesch-Nyhan Syndrome http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 05 1988 01 08 2016 2 5 37 38 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters

Five boys with Lesch-Nyhan syndrome and varying degrees of dystonia, chorea, spasticity, ataxia, dysarthria, and mental retardation were studied at the Depts of Neurology and Medicine, Baylor College of Medicine, and Depts of Neurology and Pediatrics, University of Texas Health Science Center, Houston, TX.

 Lesch-Nyhan Syndrome Homovanillic Acid 5-Hydroxyindoleacetic Acid

Five boys with Lesch-Nyhan syndrome and varying degrees of dystonia, chorea, spasticity, ataxia, dysarthria, and mental retardation were studied at the Depts of Neurology and Medicine, Baylor College of Medicine, and Depts of Neurology and Pediatrics, University of Texas Health Science Center, Houston, TX. Four showed reduction of homovanillic acid (HVA) in the CSF and all had low CSF phenethylene glycol, indicating reducee dopamine and norepinephrine turnover. Three children had high CSF 5-hydroxyindoleacetic acid (HIAA), suggesting increased serotonin turnover. The patient with the most severe chorea had the lowest CSF HVA value, whereas the patient with the least amount of self-mutilation had the highest CSF 5HIAA. Only one patient improved with carbidopa-levodopa, whereas all 5 showed some lessening of self-mutilatory or hyperkinetic behavior in response to tetrabenazine, a monoamine-depleting agent. The study was thought to support the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome. [1]

COMMENT: Lesch-Nyhan syndrome is an X-linked recessive disorder of purine metabolism characterized by hypotonia followed by spasticity, chorea, athetosis, dystonia, growth and mental retardation, self-mutilatory behavior, hyperuricemia, and nephrolithiasis [2]. The phenotypical expression is the result of a deficiency of hypoxanthineguanine phosphoribosyl-transferase enzyme, the gene located on the long arm of the X chromosome. Response to medications is variable but self-mutilation can sometimes be ameliorated. [3]

 Jankovic J Caskey TC Stout JT Butler IJ Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters Ann Neurol 1988 May 23 5 466 9 10.1002/ana.410230507 2455472 Lesch M Nyhan WL A familial disorder of uric acid metabolism and central nervous system function Am J Med 1964 Apr 36 561 70 10.1016/0002-9343(64)90104-4 14142409 Herman BH Hammock MK Arthur-Smith A Egan J Chatoor I Werner A Naltrexone decreases self-injurious behavior Ann Neurol 1987 Oct 22 4 550 2 10.1002/ana.410220419 3481242