title: Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease.
abstract: Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. This syndrome is characterized by hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia. The authors describe the case of a 15-year-old boy who underwent bilateral placement of globus pallidus internus (GPi) deep brain stimulation (DBS) electrodes for the treatment of generalized dystonia. His self-mutilating behavior gradually disappeared several weeks after the start of GPi stimulation. The dystonia and self-mutilating behavior returned on the left side only after a right lead fracture. This case is the first reported instance of LND treated with DBS in which the stimulation was interrupted and the self-mutilation returned in a lateralized fashion. The findings indicate that the neurobehavioral aspect of LND is lateralized and that contralateral GPi stimulation is responsible for lateralized improvement in self-injurious behavior.
authors.affiliation: Departments of Neurosurgery and.
authors.forename: Taylor J
authors.initials: TJ
authors.lastname: Abel
authors.forename: Brian D
authors.initials: BD
authors.lastname: Dalm
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Grossbach
authors.forename: Adam W
authors.initials: AW
authors.lastname: Jackson
authors.forename: Teri
authors.initials: T
authors.lastname: Thomsen
authors.forename: Jeremy D W
authors.initials: JD
authors.lastname: Greenlee
mesh_terms: D000058:Accidental Falls; D000293:Adolescent; D046690:Deep Brain Stimulation / Q000295:instrumentation / Q000379:methods; D004421:Dystonia / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D004567:Electrodes, Implanted; D004868:Equipment Failure; D007839:Functional Laterality; D005917:Globus Pallidus / Q000503:physiopathology*; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D016728:Self-Injurious Behavior / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D016896:Treatment Outcome
keywords: DBS = deep brain stimulation; GPi = globus pallidus internus; LND = Lesch-Nyhan disease; deep brain stimulation; functional neurosurgery; limbic globus pallidus; surgery; treatment; ventral striatum