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

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