• Clin Neuropharmacol · May 2008

    Case Reports

    Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome.

    • Cristiam Gutierrez, Alejandro Pellene, and Federico Micheli.
    • Parkinson's Disease and Movement Disorders Unit, Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina.
    • Clin Neuropharmacol. 2008 May 1; 31 (3): 180-3.

    AbstractLesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder involving purine metabolism caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase. A characteristic feature of LNS is the appearance of intractable self-injurious behavior, usually in the form of severe lip and finger biting. The mechanism behind this severe self-mutilating behavior is unknown, and is one of the main challenges in the management of this condition. We here report the case of a 30-year-old man with a confirmed diagnosis of LNS who was successfully treated for self-mutilation of his lips with repeated botulinum toxin A (BTX-A) injections in the facial perioral muscles. Our findings suggest that treatment with BTX-A helped reduce self-abusive behavior in this patient. Our case illustrates that BTX-A injections can be a useful therapeutic approach in patients with self-abusive behavior.

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