| Autor: |
J. Cortier, S. Vandamme, D. Vanhauwaert, W. Maenhoudt, J. Van Lerbeirghe, P. Tack, S. Du Four, O. Van Damme |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Brain and Spine, Vol 3, Iss , Pp 101762- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2772-5294 |
| DOI: |
10.1016/j.bas.2023.101762 |
| Popis: |
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. |
| Databáze: |
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| Externí odkaz: |
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