Carbamazepine trial for Lesch-Nyhan self-mutilation.
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.
Roach
E S
ES
Divison of Pediatric Neurology, University of Texas Southwestern Medical School, Dallas 75235, USA.
Delgado
M
M
Anderson
L
L
Iannaccone
S T
ST
Burns
D K
DK
D000293:Adolescent; D018712:Analgesics, Non-Narcotic / Q000627:therapeutic use*; D001706:Biopsy; D002220:Carbamazepine / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination / Q000187:drug effects; D010865:Pilot Projects; D012652:Self Mutilation / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology
D018712:Analgesics, Non-Narcotic; D002220:Carbamazepine