Bilateral subthalamic nucleus deep brain stimulation for dopa-responsive dystonia in a 6-year-old child Case report
Bilateral subthalamic nucleus deep brain stimulation for dopa-responsive dystonia in a 6-year-old child Case report
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DOI：
10.3171/2011.3.peds10402
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发表时间：
2011-06-01
影响因子：
1.9
通讯作者：
Tyler-Kabara, Elizabeth C.
中科院分区：
文献类型：
--
作者：
Tormenti, Matthew J.;Tomycz, Nestor D.;Tyler-Kabara, Elizabeth C.
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. (DOI: 10.3171/2011.3.PEDS10402)
