title: Bilateral subthalamic nucleus deep brain stimulation for dopa-responsive dystonia in a 6-year-old child.
abstract: Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive metabolic disease that results in the decreased production of catecholamines. Standard treatment relies on combinations of levodopa and carbidopa, anticholinergic agents, serotonergic agonists, and monamine oxidase B inhibitors. Unfortunately, severely affected children often require escalating doses of medication and suffer from dyskinesias as well as significant on/off symptomatology. The authors present a case of medically intractable dopa-responsive dystonia in a 6-year-old boy whose condition significantly improved with bilateral subthalamic nucleus deep brain stimulation. This case is unique in its novel approach to tyrosine hydroxylase deficiency and the young age of the patient.
authors.affiliation: UPMC Center for Brain Function and Behavior, Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Tormenti
authors.forename: Nestor D
authors.initials: ND
authors.lastname: Tomycz
authors.forename: Keith A
authors.initials: KA
authors.lastname: Coffman
authors.forename: Douglas
authors.initials: D
authors.lastname: Kondziolka
authors.forename: Donald J
authors.initials: DJ
authors.lastname: Crammond
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Tyler-Kabara
mesh_terms: D002648:Child; D046690:Deep Brain Stimulation / Q000379:methods; D020820:Dyskinesias / Q000151:congenital / Q000628:therapy*; D020821:Dystonic Disorders / Q000151:congenital / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008297:Male; D020531:Subthalamic Nucleus / Q000503:physiopathology*; D016896:Treatment Outcome