Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.
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.
Dabrowski
Edward
E
Division of Physical Medicine and Rehabilitation, Children's Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI 48201, USA. edabrows@dmc.org
Smathers
Sarah A
SA
Ralstrom
Curt S
CS
Nigro
Michael A
MA
Leleszi
Jimmie P
JP
D019274:Botulinum Toxins, Type A / Q000008:administration & dosage*; D002648:Child; D006230:Hand Injuries / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D007273:Injections, Intramuscular; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000175:diagnosis; D008046:Lip / Q000293:injuries; D008297:Male; D008406:Masseter Muscle / Q000187:drug effects; D019233:Retreatment; D012652:Self Mutilation / Q000175:diagnosis / Q000188:drug therapy*; D014059:Tongue / Q000293:injuries; D014945:Wound Healing / Q000187:drug effects
D019274:Botulinum Toxins, Type A