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Case Reports
. 2023 Jun 24:3:101762.
doi: 10.1016/j.bas.2023.101762. eCollection 2023.

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years

J Cortier  1 , S Vandamme  2   1 , D Vanhauwaert  1 , W Maenhoudt  1 , J Van Lerbeirghe  1 , P Tack  3 , S Du Four  1 , O Van Damme  2   1
Affiliations
Case Reports

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years

J Cortier et al. Brain Spine. .

Abstract

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.

Keywords: Abetalipoproteinemia; Ataxia; Bassen-kornzweig; Deep brain stimulation; Tremor; VIM-DBS.

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Figures

Fig. 1
Fig. 1
Spiral drawings pre- (left) and post VIM-DBS (right).
Fig. 2
Fig. 2
Postoperative brain CT (axial and coronal section) with final lead positioning.
See this image and copyright information in PMC

References

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