Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years
Introduction: Bassen-Kornzweig syndrome or abetalipoproteinemia is a rare autosomal recessive disorder characterized by a malabsorption of dietary fat and fat-soluble vitamins. This deficiency can lead to a variety of symptoms, including hematological (acanthocytosis, bleeding tendency), neurologica...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Brain and Spine |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772529423000504 |
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| author | J. Cortier S. Vandamme D. Vanhauwaert W. Maenhoudt J. Van Lerbeirghe P. Tack S. Du Four O. Van Damme |
| author_facet | J. Cortier S. Vandamme D. Vanhauwaert W. Maenhoudt J. Van Lerbeirghe P. Tack S. Du Four O. Van Damme |
| author_sort | J. Cortier |
| collection | DOAJ |
| description | Introduction: Bassen-Kornzweig syndrome or abetalipoproteinemia is a rare autosomal recessive disorder characterized by a malabsorption of dietary fat and fat-soluble vitamins. This deficiency can lead to a variety of symptoms, including hematological (acanthocytosis, bleeding tendency), neurological (tremor, spinocerebellar ataxia), neuromuscular (myopathy), ophthalmological symptoms (retinitis pigmentosa). The thalamic ventral intermediate nucleus (VIM) is a well-established target for deep brain stimulation (DBS) in the treatment of refractory tremor. Research question: We evaluated the clinical long-term follow-up (22 years) after VIM-DBS for refractory tremor in abetalipoproteinemia. We also evaluated the adjustments of stimulation settings and medication balance after DBS procedure. Material and methods: We report a 53-year-old male who suffers from abetalipoproteinemia since the age of 17. He underwent bilateral VIM-DBS to treat his disabling refractory intentional tremor at the age of 31. He still has a very good response to his tremor with limited stimulation adaptations over 22 years. For more than two decades follow-up, the treatment significantly improved his ADL functions and therefore also the QoL. Discussion and conclusion: The VIM target for DBS in the treatment of refractory tremor has been extensively reported in the literature. Thalamic VIM-DBS is a safe and effective treatment for a severe, refractory tremor as a neurological symptom caused by abetalipoproteinemia. It also highlights the importance of a multidisciplinary follow-up, to adjust and optimize the stimulation/medication balance after VIM-DBS surgery. |
| first_indexed | 2024-03-09T01:33:16Z |
| format | Article |
| id | doaj.art-78a6d8e03d9b44338621847945439808 |
| institution | Directory Open Access Journal |
| issn | 2772-5294 |
| language | English |
| last_indexed | 2024-03-09T01:33:16Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Brain and Spine |
| spelling | doaj.art-78a6d8e03d9b443386218479454398082023-12-09T06:09:03ZengElsevierBrain and Spine2772-52942023-01-013101762Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 yearsJ. Cortier0S. Vandamme1D. Vanhauwaert2W. Maenhoudt3J. Van Lerbeirghe4P. Tack5S. Du Four6O. Van Damme7Department of Neurosurgery, AZ Delta, Roeselare, Belgium; Corresponding author. Department of Neurosurgery Hospital: AZ Delta, Deltalaan 1, 8800 Roeselare, Belgium.Movement Disorders Team, AZ Delta, Roeselare, Belgium; Department of Neurosurgery, AZ Delta, Roeselare, BelgiumDepartment of Neurosurgery, AZ Delta, Roeselare, BelgiumDepartment of Neurosurgery, AZ Delta, Roeselare, BelgiumDepartment of Neurosurgery, AZ Delta, Roeselare, BelgiumDepartment of Neurology, Sint-Andriesziekenhuis, Tielt, BelgiumDepartment of Neurosurgery, AZ Delta, Roeselare, BelgiumMovement Disorders Team, AZ Delta, Roeselare, Belgium; Department of Neurosurgery, AZ Delta, Roeselare, BelgiumIntroduction: Bassen-Kornzweig syndrome or abetalipoproteinemia is a rare autosomal recessive disorder characterized by a malabsorption of dietary fat and fat-soluble vitamins. This deficiency can lead to a variety of symptoms, including hematological (acanthocytosis, bleeding tendency), neurological (tremor, spinocerebellar ataxia), neuromuscular (myopathy), ophthalmological symptoms (retinitis pigmentosa). The thalamic ventral intermediate nucleus (VIM) is a well-established target for deep brain stimulation (DBS) in the treatment of refractory tremor. Research question: We evaluated the clinical long-term follow-up (22 years) after VIM-DBS for refractory tremor in abetalipoproteinemia. We also evaluated the adjustments of stimulation settings and medication balance after DBS procedure. Material and methods: We report a 53-year-old male who suffers from abetalipoproteinemia since the age of 17. He underwent bilateral VIM-DBS to treat his disabling refractory intentional tremor at the age of 31. He still has a very good response to his tremor with limited stimulation adaptations over 22 years. For more than two decades follow-up, the treatment significantly improved his ADL functions and therefore also the QoL. Discussion and conclusion: The VIM target for DBS in the treatment of refractory tremor has been extensively reported in the literature. Thalamic VIM-DBS is a safe and effective treatment for a severe, refractory tremor as a neurological symptom caused by abetalipoproteinemia. It also highlights the importance of a multidisciplinary follow-up, to adjust and optimize the stimulation/medication balance after VIM-DBS surgery.http://www.sciencedirect.com/science/article/pii/S2772529423000504AbetalipoproteinemiaAtaxiaBassen-kornzweigDeep brain stimulationTremorVIM-DBS |
| spellingShingle | J. Cortier S. Vandamme D. Vanhauwaert W. Maenhoudt J. Van Lerbeirghe P. Tack S. Du Four O. Van Damme Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years Brain and Spine Abetalipoproteinemia Ataxia Bassen-kornzweig Deep brain stimulation Tremor VIM-DBS |
| title | Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years |
| title_full | Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years |
| title_fullStr | Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years |
| title_full_unstemmed | Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years |
| title_short | Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years |
| title_sort | deep brain stimulation in bassen kornzweig syndrome still effective after 22 years |
| topic | Abetalipoproteinemia Ataxia Bassen-kornzweig Deep brain stimulation Tremor VIM-DBS |
| url | http://www.sciencedirect.com/science/article/pii/S2772529423000504 |
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