title: Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report.
abstract: Lesch-Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The authors performed bilateral chronic stimulation of the globus pallidus internus for control of dystonic movements in a 19-year-old man with LNS. His self-mutilating behavior unexpectedly disappeared after chronic stimulation. This is the first case of LNS that has been successfully treated with deep brain stimulation. The findings indicate that neurobehavioral features of this syndrome are either mediated in the basal ganglia pathways or secondary to the dystonia.
authors.affiliation: Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan. ttaira@nij.twmu.ac.jp
authors.forename: Takaomi
authors.initials: T
authors.lastname: Taira
authors.forename: Tomonori
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Tomokatsu
authors.initials: T
authors.lastname: Hori
mesh_terms: D000328:Adult; D004599:Electric Stimulation Therapy; D005917:Globus Pallidus / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000503:physiopathology / Q000628:therapy*; D008297:Male; D012652:Self Mutilation / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy*; D014057:Tomography, X-Ray Computed