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.