title: Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.
abstract: OBJECTIVE
  Lesch-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.
  
  
  METHODS
  We 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.
  
  
  RESULTS
  We observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior.
  
  
  CONCLUSIONS
  This 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.
authors.affiliation: 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.
authors.forename: Fabián
authors.initials: F
authors.lastname: Piedimonte
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Andreani
authors.forename: Leandro
authors.initials: L
authors.lastname: Piedimonte
authors.forename: Federico
authors.initials: F
authors.lastname: Micheli
authors.forename: Pablo
authors.initials: P
authors.lastname: Graff
authors.forename: Valeria
authors.initials: V
authors.lastname: Bacaro
mesh_terms: D000328:Adult; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000628:therapy*; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male
keywords: Deep brain stimulation; Lesch-Nyhan disease; globus pallidus internus; psychiatric disorders; self-mutilation