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Carbamazepine Trial for Lesch-Nyhan Self-Mutilation

Division of Pediatric Neurology, University of Texas Southwestern Medical School, Texas Scottish Rite Hospital for Children Dallas, TX

Mauricio Delgado, MD

Division of Pediatric Neurology, University of Texas Southwestern Medical School, Texas Scottish Rite Hospital for Children Dallas, TX

Louise Anderson, MD

Division of Pediatric Neurology, University of Texas Southwestern Medical School

Susan T. Iannaccone, MD

Division of Pediatric Neurology, University of Texas Southwestern Medical School, Texas Scottish Rite Hospital for Children Dallas, TX

Dennis K. Bums, MD

Department of Pathology University of Texas Southwestern Medical School

Anticonvulsants may reduce the self-mutilation of acquired sensory neuropathy, and one report described sensory neuropathy in an older patient with Lesch-Nyhan syndrome. We performed nerve and muscle biopsies on four patients with Lesch-Nyhan syndrome and initiated an uncontrolled pilot trial to see if carbamazepine would reduce the self-mutilation in these patients. All of the boys had clinical features typical of Lesch-Nyhan syndrome, and the diagnosis was confirmed in each by enzyme analysis. No specific abnormalities were identified in either nerve or muscle. Nevertheless, self-mutilation and the need for constant restraint diminished in all four patients, though in one the effect was only transient. Two patients had increased self-mutilation when carbamazepine was stopped, then improved a second time when treatment was restarted. Sensory neuropathy was not confirmed, so any effect of carbamazepine is likely to be on the central nervous system. (J Child Neurol 1996;11:476-478).

Journal of Child Neurology, Vol. 11, No. 6, 476-478 (1996)
DOI: 10.1177/088307389601100613


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