Objective: Report on tolerability of VIM-deep brain stimulation (DBS) in a patient with cerebrotendinous xanthomatosis (CTX) and medication refractory unilateral tremor.

Background: CTX is a rare treatable lipid storage disease. CTX associated hypokinetic and hyperkinetic movement disorders are thought to be a late disease manifestation. When treatment is delayed neuropsychiatric and systemic disease manifestations are irreversible and can be progressive. DBS is an established therapy option for patients with various movement disorders including less common tremor disorders, however therapy tolerability and response has not yet been reported in CTX.

Method: We report on a case of a 37 year old left-handed male with multiple CTX related sequelae including developmental delay, cataracts, epilepsy, diabetes, chronic pancreatitis, anxiety/depression, parkinsonism and tremor. He has been on chenodeoxcholic acid replacement therapy since diagnosis at age 22. He reported a dramatic worsening of tremor in 2016. Brain MRI revealed T2 hyperintensities in bilateral cerebellar dentate nuclei. Of note he had been on Aripriprazole for presumed mood disorder, 2010-2017. Transient initial improvement to parkinsonism and tremor with levodopa and amantadine however subsequent GI side effects with attempts at further titration. Levodopa ON/OFF with 16% response. Trials with Primidone and Topiramate unsuccessful, bradycardia limited use of beta blocker. Chenodeoxycholic acid therapy compliance verified, titration attempts led to worsening irritability and aggression. Limitation from action/postural tremor impacting dominant hand. Patient underwent unilateral right VIM-DBS for tremor control.

Results: Lesion effect post-lead placement, optimization of stimulation achieved after initial programming session [2-C+ 2.0v, pulse width 90 and frequency 130] with sustained improvement over 6 months. Tremor rating scale (Fahn-Tolosa-Marin) pre-DBS total score 32/144 [moderate functional disability], post DBS total score 15/144 [no functional disability]. Subjectively 90% improved and positive impact to overall quality of life. Pre-surgical neuropsychological baseline overall stable at 3 months post-VIM-DBS.

Conclusion: In this patient with CTX, implantation of unilateral VIM DBS was well tolerated and effective in treating medication refractory tremor without negatively impacting neuropsychiatric sequela of disease.

References: 1. Nie, S., et al., Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis, 2014. 9: p. 179. 2. Stelten, B.M.L., et al., Movement disorders in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord, 2019. 58: p. 12-16. 3. Zubarioglu, T., et al., Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. Acta Neurol Belg, 2019. 119(3): p. 343-350.

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