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Neuropediatrics 2008; 39(4): 239-242
DOI: 10.1055/s-0028-1112117
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Return to Participation – Significant Improvement after Bilateral Pallidal Stimulation in Rapidly Progressive DYT-1 Dystonia

I. Borggraefe 1 , K. Boetzel 2 , J. Boehmer 1 , S. Berweck 1 , W. Mueller-Felber 1 , K. Mueller 3 , J. H. Mehrkens 4 , F. Heinen 1
  • 1Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany
  • 2Department of Neurology, Klinikum Grosshadern, University of Munich, Munich, Germany
  • 3Rehabilitation Center St. Mauritius, Meerbusch, Germany
  • 4Department of Neurosurgery, Klinikum Grosshadern, University of Munich, Germany
Further Information

Publication History

received 05.02.2008

accepted 22.11.2008

Publication Date:
22 January 2009 (online)

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Abstract

We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYT1-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations. The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn-Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained.

Key words

DYT1 - generalized dystonia - pallidal stimulation - children

References

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Appendix


Quality:

Video segment 1: Dystonia of the left leg interfering with gait (10 months after onset).


Quality:

Video segment 2: Generalized dystonia with inability to walk (14 months after onset).


Quality:

Video segment 3: Generalized dystonia with severely affected motor function and inability to sit with marked pathological posturing (18 months after onset and just before DBS).


Quality:

Video segment 4: Significant relief of clinical symptoms 8 months after DBS with complete restored ability no walk. Note that the patient now wears glasses due to hyperopia.

Online content including video sequences viewable at: www.thieme-connect.de/ejournals/toc/neuropediatrics

Correspondence

I. Borggraefe

Department of Pediatric Neurology and Developmental Medicine

Dr. von Hauner's Children's Hospital

University of Munich

Lindwurm Street 4

80337 Munich

Germany

Phone: +49/89/5160 78 51

Fax: +49/89/5160 77 45

Email: ingo.borggraefe@med.uni-muenchen.de

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