Disappearance of self-mutilation in a patient with Lesch—Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus

• DOI: 10.3171/jns.2003.98.2.0414
• Publication Date: 2009-05-13T17:55:36Z
• Authors: Takaomi Taira; Tomonori Kobayashi; Tomokatsu Hori
• Keywords: Adult; Male; 03 medical and health sciences; 0302 clinical medicine; Lesch-Nyhan Syndrome; Self Mutilation; Humans; Electric Stimulation Therapy; Globus Pallidus; Tomography, X-Ray Computed; 3. Good health

✓ 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.