Carbamazepine trial for Lesch-Nyhan self-mutilation

E. S. Roach, Mauricio Delgado, Louise Anderson, Susan T. Iannaccone, Dennis K. Burns

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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 continued, so any effect of carbamazepine is likely to be on the central nervous system.

Original languageEnglish (US)
Pages (from-to)476-478
Number of pages3
JournalJournal of child neurology
Issue number6
StatePublished - Nov 1996

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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