Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden—Spatz syndrome

Case report

Atsushi Umemura M.D.1, Jurg L. Jaggi Ph.D.1, Carol A. Dolinskas M.D.1, Matthew B. Stern M.D.1, and Gordon H. Baltuch M.D., Ph.D., F.R.C.S.(C)1
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  • 1 Departments of Neurosurgery, Neurology, and Radiology, Penn Neurological Institute at Pennsylvania Hospital, University of Pennsylvania, Philadelphia, Pennsylvania
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✓ Generalized dystonia is one of the most disabling movement disorders. Ablative stereotactic surgery such as pallidotomy has been performed for medically refractory dystonia. Recently, deep brain stimulation (DBS) has appeared as an alternative to ablative procedures. Nevertheless, there have been few published reports detailing improvement in dystonia with DBS.

This 36-year-old man with Hallervorden—Spatz syndrome suffered from intractable primary generalized dystonia for 28 years. He was completely dependent for activities of daily living and wheelchair bound because of continuous severe dystonic movements in the face, tongue, neck, trunk, and upper and lower extremities while at rest. The Burke-Fahn-Marsden (BFM) Dystonia Rating Scale score was 112 (maximum 120 points). Bilateral DBS of the globus pallidus internus was performed and resulted in marked improvement in motor functioning and dystonic symptoms with a significant reduction in disability. The BFM score improved to 22.5 points (80% improvement) at 3 months postsurgery and the patient's dystonia was still well suppressed 1 year after surgery.

Bilateral pallidal stimulation is an effective and safe treatment for intractable generalized dystonia in Hallervorden—Spatz syndrome, even if the disability is severe and longstanding.

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