Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants

Volker Arnd Coenen; Michel Rijntjes; Bastian Sajonz; Tobias Piroth; Thomas Prokop; Wolfgang Jost; Michael Trippel; Horst Urbach; Peter Christoph Reinacher

doi:10.1055/s-0038-1669472

Journal of Neurological Surgery Part A: Central European Neurosurgery, Table of Contents

J Neurol Surg A Cent Eur Neurosurg 2019; 80(01): 044-048
DOI: 10.1055/s-0038-1669472

Surgical Technique

Georg Thieme Verlag KG Stuttgart · New York

Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants

Volker Arnd Coenen

¹Department of Stereotactic and Functional Neurosurgery, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Michel Rijntjes

²Department of Neurology and Neurophysiology, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Bastian Sajonz

¹Department of Stereotactic and Functional Neurosurgery, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Tobias Piroth

²Department of Neurology and Neurophysiology, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Thomas Prokop

¹Department of Stereotactic and Functional Neurosurgery, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Wolfgang Jost

⁵Parkinson-Klinik Wolfach, Germany

,

Michael Trippel

¹Department of Stereotactic and Functional Neurosurgery, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Horst Urbach

³Department of Neuroradiology, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

,

Peter Christoph Reinacher

¹Department of Stereotactic and Functional Neurosurgery, University Hospital Freiburg, Freiburg, Germany

⁴Medical Faculty, Freiburg University, Freiburg, Germany

› Author Affiliations

Abstract

Introduction A 28-year-old man presented with a history of sensorineural deafness since early childhood treated with bilateral cochlear implants (CIs). He showed signs of debilitating dystonia that had been present since puberty. Dystonic symptoms, especially a protrusion of the tongue and bilateral hand tremor, had not responded to botulinum toxin therapy. We diagnosed Mohr-Tranebjaerg syndrome (MTS).

Methods and Material Deep brain stimulation (DBS) of the bilateral globus pallidus internus was performed predominantly with stereotaxic computed tomography angiography guidance under general anesthesia. Electrophysiology was used to identify the target regions and to guide DBS electrode placement.

Results In the immediate postoperative course and stimulation, the patient showed marked improvement of facial, extremity, and cervical dystonia. More than 2 years after implantation, his dystonic symptoms had dramatically improved by 82%.

Discussion MTS is a rare genetic disorder leading to sensorineural deafness, dystonia, and other symptoms. The use of DBS for the dystonia in MTS was previously described but not in the presence of bilateral CIs.

Conclusion DBS in MTS may be a viable option to treat debilitating dystonic symptoms. We describe successful DBS surgery, despite the presence of bilateral CIs, and stimulation therapy over 2 years.

Keywords

cochlear implant - deafness dystonia - deep brain stimulation - Mohr-Tranebjaerg syndrome

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References

References
1 Eggink H, van Egmond ME, Verschuuren-Bemelmans CC. , et al. Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. Mov Disord 2016; 32 (01) 162-165
2 Cif L, Gonzalez V, Garcia-Ptacek S. , et al. Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation. Mov Disord 2013; 28 (06) 737-738
3 Buell TJ, Ksendzovsky A, Shah BB, Kesser BW, Elias WJ. Deep brain stimulation in the setting of cochlear implants: case report and literature review. Stereotact Funct Neurosurg 2015; 93 (04) 245-249
4 Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985; 35 (01) 73-77
5 Tranebjaerg L. Deafness-dystonia-optic neuronopathy syndrome. In: Pagon RA, Bird TC, Dolan CR. , eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2003
6 Dulski J, Schinwelski M, Mandat T, Pienczk-Ręcławowicz K, Sławek J. Long-term follow-up with video of a patient with deafness-dystonia syndrome treated with DBS-GPi. Stereotact Funct Neurosurg 2016; 94 (02) 123-125