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

  • Edward Dabrowski (a1) (a2) (a3), Sarah A Smathers (a3), Curt S Ralstrom (a4), Michael A Nigro (a2) (a3) (a5) and Jimmie P Leleszi (a6) (a7)...

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.

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Corresponding author

Division of Physical Medicine and Rehabilitation, Children's Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI 48201, USA. E-mail: edabrows@dmc.org

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

  • Edward Dabrowski (a1) (a2) (a3), Sarah A Smathers (a3), Curt S Ralstrom (a4), Michael A Nigro (a2) (a3) (a5) and Jimmie P Leleszi (a6) (a7)...

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