• Fabián Piedimonte, Juan Carlos Andreani, Leandro Piedimonte, Federico Micheli, Pablo Graff, and Valeria Bacaro.
• Fundación CENIT para la Investigación en Neurociencias, Buenos Aires, Argentina; Sociedad Argentina de Neuromodulación (SANE), Buenos Aires, Argentina; Instituto de Morfología "J.J. Naón," Facultad de Medicina, Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.
• Neuromodulation. 2015 Feb 1;18(2):118-22; discussion 122.

ObjectivesLesch-Nyhan disease (LND) is a hereditary disorder characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The lack of a precise understanding of the neurological dysfunction has precluded the development of useful conservative therapies. We present our experience treating a LND patient by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) with improvement in dystonia symptoms and disappearance of self-injurious behavior.MethodsWe present a 29-year-old patient characterized by generalized severe dystonia and self-injurious behavior, both refractory to conservative treatment. The patient underwent a GPi bilateral electrode implant for chronic stimulation. Symptoms were evaluated with the Burke-Fhan-Marsden Dystonia Rating Scale (BFMDRS) and Mean Disability Scale (MDS) preoperatively and during the five-year follow-up.ResultsWe observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior.ConclusionsThis case supports the hypothesis that automutilation in LND might be related to dysfunction of the basal ganglia circuits and the idea that bilateral GPi-DBS is a safe and effective treatment modality for this condition.© 2015 International Neuromodulation Society.

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