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The First deep brain stimulation in Lithuania for generalized dystonia in a teenager
Lietuvos sveikatos mokslų universiteto ligoninė Kauno klinikos | ||
Date Issued |
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2015-05-13 |
ISSN 2228-1665 (online).
Introduction. Primary torsionic dystonia is a rare genetic disease characterized by involuntary sustained muscular contractions that lead to abnormal postures and repetitive movements of one or several parts of the body. Neurostimulation of internal globus pallidus is the most effective treatment in reducing symptoms of primary dystonia. Case. We presen a 16 year-old boy with a 9-year history of primary generalized torsionic dystonia. Various investigations ruled out symptomatic dystonia. Genetic investigation excluded mutation in the DYT1(TOR1A) gene Symptoms started at the age of 7 years as involuntary painful contractions in the left hand and right leg, later contractions involved all extremities, and the neck and trunk, causing difficulty to walk and scoliosis which has been corrected by orthopedic surgery. During the 8-year period the disease slowly progressed with rapid worsening at the age of 15 when painful dystonic movements in the legs and pelvis developed, the patient lost his ambulation, was suffering from severe pain and became bedridden. Various pharmacological agents were used (including L-dopa) without an effect. In October 2014 deep brain stimulation (DGS) implantation was performed at the Department of Neurosurgery in Kaunas, using the St. Jude Medical DBS system. Two leads with 4 contacts and 1.5mm spacing were stereotactically implanted bilaterally in globus pallidus internus, followed by control of the lead position using intraoperative CT with Ceretom™. Aftrwards 1.5T MRI was performed to vizualize the lead position directly in Gpi. On the same day a Brio™ rechargeable impulse generator was implanted, and since that time the patient has been able to cooperate; monopolar constant current stimulation was started with 130 Hz and 60 ms settings. DBS resukted in a dramatic positive effect: the patient immediately became free painful contractions; in one week he was able to sit without support and stand up.At five months of folo-up he i.