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

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

Dev Med Child Neurol

Division of Physical Medicine and Rehabilitation, Children's Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI 48201, USA.

Published: September 2005

AI Article Synopsis

Article 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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