Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.

Abstract

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency of the metabolic enzyme hypozanthine-guanine phosphoribosyltransferase (HPRT). This syndrome presents with abnormal metabolic and neurological manifestations including hyperuricemia, mental retardation*, spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilating behavior exhibited by patients with LNS is unknown and remains one of the greatest obstacles in providing care to these patients. This report describes a 10-year-old male child with confirmed LNS who was treated for self-mutilation of his hands, tongue, and lips with repeated botulinum toxin A (BTX-A) injections into the bilateral masseters. Our findings suggest that treatment with BTX-A affects both the central and peripheral nervous systems, resulting in reduced self-abusive behavior in this patient.

• Authors: Edward Dabrowski, Sarah A Smathers, Curt S Ralstrom, Michael A Nigro, Jimmie P Leleszi
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 47 Issue 9 Pg. 636-9 (Sep 2005) ISSN: 0012-1622 [Print] England
• PMID: 16138673 (Publication Type: Case Reports, Journal Article)

Chemical References

• Botulinum Toxins, Type A

Topics

• Botulinum Toxins, Type A (administration & dosage)
• Child
• Hand Injuries (diagnosis, drug therapy)
• Humans
• Injections, Intramuscular
• Lesch-Nyhan Syndrome (complications, diagnosis)
• Lip (injuries)
• Male
• Masseter Muscle (drug effects)
• Retreatment
• Self Mutilation (diagnosis, drug therapy)
• Tongue (injuries)
• Wound Healing (drug effects)